Linked Data
ClinVar Variation Id:
726686
ClinVar RCV Id:
RCV000900937
dbSNP Id:
rs146121341
ExAC:
13:111932967 G / A
gnomAD v2:
13-111932967-G-A
gnomAD v3:
13-111280620-G-A
gnomAD v4:
13-111280620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.111280620G>A , CM000675.2:g.111280620G>A | GRCh38 |
| NC_000013.10:g.111932967G>A , CM000675.1:g.111932967G>A | GRCh37 |
| NC_000013.9:g.110730968G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700426.1:c.1668G>A | ENSP00000514984.1:p.Thr556= | |
| ENST00000646102.2:c.1668G>A MANE Select | ENSP00000495631.1:p.Thr556= | |
| ENST00000646102.1:c.1668G>A | ENSP00000495631.1:p.Thr556= | |
| ENST00000218789.9:c.1197G>A | ENSP00000218789.5:p.Thr399= | |
| ENST00000317133.9:c.1668G>A | ENSP00000325994.5:p.Thr556= | |
| ENST00000375723.5:c.1197G>A | ENSP00000364875.1:p.Thr399= | |
| ENST00000375736.8:c.1197G>A | ENSP00000364888.4:p.Thr399= | |
| ENST00000375739.6:c.1581G>A | ENSP00000364891.2:p.Thr527= | |
| ENST00000375741.6:c.1731G>A | ENSP00000364893.2:p.Thr577= | |
| ENST00000426073.6:c.1197G>A | ENSP00000397068.2:p.Thr399= | |
| ENST00000466143.5:c.1197G>A | ENSP00000418067.1:p.Thr399= | |
| ENST00000469877.5:c.*620G>A | ENSP00000418235.1:n.*620G>A | |
| ENST00000478679.5:c.963G>A | ENSP00000417596.1:p.Thr321= | |
| ENST00000544132.2:c.277G>A | ||
| NM_001113511.1:c.1731G>A | NP_001106983.1:p.Thr577= | |
| NM_001113512.1:c.1581G>A | NP_001106984.1:p.Thr527= | |
| NM_001113513.1:c.1197G>A | NP_001106985.1:p.Thr399= | |
| NM_003899.3:c.1197G>A | NP_003890.1:p.Thr399= | |
| NM_145735.2:c.1668G>A | NP_663788.1:p.Thr556= | |
| XM_005254085.2:c.1668G>A | XP_005254142.1:p.Thr556= | |
| XM_005254086.2:c.1668G>A | XP_005254143.1:p.Thr556= | |
| XM_005254087.2:c.1668G>A | XP_005254144.1:p.Thr556= | |
| XM_005254088.2:c.1452G>A | XP_005254145.1:p.Thr484= | |
| XM_005254089.2:c.1422G>A | XP_005254146.1:p.Thr474= | |
| XM_005254090.2:c.1452G>A | XP_005254147.1:p.Thr484= | |
| XM_005254091.2:c.1422G>A | XP_005254148.1:p.Thr474= | |
| XM_005254092.2:c.1197G>A | XP_005254149.1:p.Thr399= | |
| XM_005254093.2:c.1197G>A | XP_005254150.1:p.Thr399= | |
| XM_005254094.2:c.1197G>A | XP_005254151.1:p.Thr399= | |
| XM_005254095.2:c.1197G>A | XP_005254152.1:p.Thr399= | |
| XM_006719956.2:c.1668G>A | XP_006720019.1:p.Thr556= | |
| XM_006719958.2:c.1197G>A | XP_006720021.1:p.Thr399= | |
| XM_006719959.2:c.1197G>A | XP_006720022.1:p.Thr399= | |
| XM_006719960.2:c.1668G>A | XP_006720023.1:p.Thr556= | |
| XM_011521130.1:c.1581G>A | XP_011519432.1:p.Thr527= | |
| XM_011521131.1:c.1581G>A | XP_011519433.1:p.Thr527= | |
| XM_011521132.1:c.1197G>A | XP_011519434.1:p.Thr399= | |
| XM_011521133.1:c.*74G>A | XP_011519435.1:n.*74G>A | |
| NM_001113511.2:c.1731G>A | NP_001106983.1:p.Thr577= | |
| NM_001113512.2:c.1581G>A | NP_001106984.1:p.Thr527= | |
| NM_001320851.1:c.1197G>A | NP_001307780.1:p.Thr399= | |
| NM_001320852.1:c.1668G>A | NP_001307781.1:p.Thr556= | |
| NM_001320853.1:c.1422G>A | NP_001307782.1:p.Thr474= | |
| NM_001320854.1:c.963G>A | NP_001307783.1:p.Thr321= | |
| NM_001330597.1:c.1197G>A | NP_001317526.1:p.Thr399= | |
| NM_001330598.1:c.1197G>A | NP_001317527.1:p.Thr399= | |
| NM_001354046.1:c.1668G>A | NP_001340975.1:p.Thr556= | |
| NM_001354047.1:c.1452G>A | NP_001340976.1:p.Thr484= | |
| NM_001354048.1:c.1197G>A | NP_001340977.1:p.Thr399= | |
| NM_001354049.1:c.1197G>A | NP_001340978.1:p.Thr399= | |
| NM_001354050.1:c.1197G>A | NP_001340979.1:p.Thr399= | |
| NM_001354051.1:c.1197G>A | NP_001340980.1:p.Thr399= | |
| NM_001354052.1:c.1197G>A | NP_001340981.1:p.Thr399= | |
| NM_001354053.1:c.1197G>A | NP_001340982.1:p.Thr399= | |
| NM_001354054.1:c.1197G>A | NP_001340983.1:p.Thr399= | |
| NM_001354055.1:c.963G>A | NP_001340984.1:p.Thr321= | |
| NM_001354056.1:c.1197G>A | NP_001340985.1:p.Thr399= | |
| NM_001354057.1:c.1197G>A | NP_001340986.1:p.Thr399= | |
| NM_001354058.1:c.1197G>A | NP_001340987.1:p.Thr399= | |
| NM_001354059.1:c.1197G>A | NP_001340988.1:p.Thr399= | |
| NM_001354060.1:c.1197G>A | NP_001340989.1:p.Thr399= | |
| NM_001354061.1:c.825G>A | NP_001340990.1:p.Thr275= | |
| NM_003899.4:c.1197G>A | NP_003890.1:p.Thr399= | |
| NM_145735.3:c.1668G>A | NP_663788.1:p.Thr556= | |
| XM_006719956.3:c.1668G>A | XP_006720019.1:p.Thr556= | |
| XM_011521133.2:c.*74G>A | XP_011519435.1:n.*74G>A | |
| XM_017020814.1:c.1668G>A | XP_016876303.1:p.Thr556= | |
| XM_017020815.1:c.1452G>A | XP_016876304.1:p.Thr484= | |
| XM_017020816.1:c.1422G>A | XP_016876305.1:p.Thr474= | |
| XM_017020819.1:c.1197G>A | XP_016876308.1:p.Thr399= | |
| XM_017020820.1:c.1197G>A | XP_016876309.1:p.Thr399= | |
| XM_017020821.2:c.1197G>A | XP_016876310.1:p.Thr399= | |
| XM_017020822.1:c.1197G>A | XP_016876311.1:p.Thr399= | |
| XM_017020823.2:c.1197G>A | XP_016876312.1:p.Thr399= | |
| XM_017020828.1:c.825G>A | XP_016876317.1:p.Thr275= | |
| XM_017020829.2:c.825G>A | XP_016876318.1:p.Thr275= | |
| XM_024449428.1:c.1197G>A | XP_024305196.1:p.Thr399= | |
| XR_001749712.1:n.1625G>A | ||
| XR_002957481.1:n.1697G>A | ||
| NM_001113513.2:c.1197G>A | NP_001106985.1:p.Thr399= | |
| NM_001320851.2:c.1197G>A | NP_001307780.1:p.Thr399= | |
| NM_001320853.2:c.1422G>A | NP_001307782.1:p.Thr474= | |
| NM_001320854.2:c.963G>A | NP_001307783.1:p.Thr321= | |
| NM_001330597.2:c.1197G>A | NP_001317526.1:p.Thr399= | |
| NM_001330598.2:c.1197G>A | NP_001317527.1:p.Thr399= | |
| NM_001354049.2:c.1197G>A | NP_001340978.1:p.Thr399= | |
| NM_001354050.2:c.1197G>A | NP_001340979.1:p.Thr399= | |
| NM_001354051.2:c.1197G>A | NP_001340980.1:p.Thr399= | |
| NM_001354052.2:c.1197G>A | NP_001340981.1:p.Thr399= | |
| NM_001354053.2:c.1197G>A | NP_001340982.1:p.Thr399= | |
| NM_001354054.2:c.1197G>A | NP_001340983.1:p.Thr399= | |
| NM_001354055.2:c.963G>A | NP_001340984.1:p.Thr321= | |
| NM_001354057.2:c.1197G>A | NP_001340986.1:p.Thr399= | |
| NM_001354058.2:c.1197G>A | NP_001340987.1:p.Thr399= | |
| NM_001354059.2:c.1197G>A | NP_001340988.1:p.Thr399= | |
| NM_001354060.2:c.1197G>A | NP_001340989.1:p.Thr399= | |
| NM_001354061.2:c.825G>A | NP_001340990.1:p.Thr275= | |
| NM_003899.5:c.1197G>A | NP_003890.1:p.Thr399= | |
| NM_001354046.2:c.1668G>A MANE Select | NP_001340975.1:p.Thr556= |