Linked Data
ClinVar Variation Id:
361902
dbSNP Id:
rs148424037
ExAC:
8:133622443 G / C
gnomAD v2:
8-133622443-G-C
gnomAD v3:
8-132610197-G-C
gnomAD v4:
8-132610197-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132610197G>C , CM000670.2:g.132610197G>C | GRCh38 |
| NC_000008.10:g.133622443G>C , CM000670.1:g.133622443G>C | GRCh37 |
| NC_000008.9:g.133691625G>C | NCBI36 |
| NG_033068.1:g.70421C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1109C>G MANE Select | ENSP00000484634.1:p.Thr370Arg | |
| ENST00000250173.5:c.1100C>G | ENSP00000250173.2:p.Thr367Arg | |
| ENST00000518642.5:c.1100C>G | ENSP00000428610.1:p.Thr367Arg | |
| ENST00000519085.5:c.273C>G | ||
| ENST00000519595.5:c.1109C>G | ENSP00000429791.1:p.Thr370Arg | |
| ENST00000522597.1:n.378C>G | ||
| ENST00000522789.5:c.329C>G | ENSP00000428015.1:p.Thr110Arg | |
| ENST00000618342.1:c.1109C>G | ENSP00000484802.1:p.Thr370Arg | |
| ENST00000620350.4:c.1109C>G | ENSP00000484634.1:p.Thr370Arg | |
| NM_012472.4:c.1109C>G | NP_036604.2:p.Thr370Arg | |
| NR_073525.1:n.1224C>G | ||
| XM_006716538.2:c.1127C>G | XP_006716601.2:p.Thr376Arg | |
| XM_011516950.1:c.1067C>G | XP_011515252.1:p.Thr356Arg | |
| XM_011516951.1:c.1127C>G | XP_011515253.1:p.Thr376Arg | |
| XM_011516952.1:c.863C>G | XP_011515254.1:p.Thr288Arg | |
| XM_011516953.1:c.749C>G | XP_011515255.1:p.Thr250Arg | |
| XM_011516954.1:c.749C>G | XP_011515256.1:p.Thr250Arg | |
| XR_428377.2:n.1252C>G | ||
| NM_001321961.1:c.1049C>G | NP_001308890.1:p.Thr350Arg | |
| NM_001321962.1:c.863C>G | NP_001308891.1:p.Thr288Arg | |
| NM_001321963.1:c.749C>G | NP_001308892.1:p.Thr250Arg | |
| NM_001321964.1:c.749C>G | NP_001308893.1:p.Thr250Arg | |
| NM_001321965.1:c.749C>G | NP_001308894.1:p.Thr250Arg | |
| NM_001321966.1:c.689C>G | NP_001308895.1:p.Thr230Arg | |
| NM_012472.5:c.1109C>G | NP_036604.2:p.Thr370Arg | |
| NR_073525.2:n.1224C>G | ||
| NR_135905.1:n.1322C>G | ||
| NR_135906.1:n.763C>G | ||
| NR_135907.1:n.1009C>G | ||
| NR_135908.1:n.703C>G | ||
| NR_135909.1:n.1127C>G | ||
| NR_135910.1:n.1434C>G | ||
| NR_135911.1:n.1513C>G | ||
| NR_135912.1:n.2072C>G | ||
| NR_135913.1:n.1759C>G | ||
| XM_006716538.3:c.1127C>G | XP_006716601.2:p.Thr376Arg | |
| XM_011516950.2:c.1067C>G | XP_011515252.1:p.Thr356Arg | |
| XM_017013296.1:c.1007C>G | XP_016868785.1:p.Thr336Arg | |
| XM_017013297.1:c.749C>G | XP_016868786.1:p.Thr250Arg | |
| XM_017013298.1:c.749C>G | XP_016868787.1:p.Thr250Arg | |
| NM_012472.6:c.1109C>G MANE Select | NP_036604.2:p.Thr370Arg | |
| NM_001321961.2:c.1049C>G | NP_001308890.1:p.Thr350Arg | |
| NM_001321962.2:c.863C>G | NP_001308891.1:p.Thr288Arg | |
| NM_001321963.2:c.749C>G | NP_001308892.1:p.Thr250Arg | |
| NM_001321964.2:c.749C>G | NP_001308893.1:p.Thr250Arg | |
| NM_001321965.2:c.749C>G | NP_001308894.1:p.Thr250Arg | |
| NM_001321966.2:c.689C>G | NP_001308895.1:p.Thr230Arg | |
| NR_073525.3:n.1152C>G | ||
| NR_135905.2:n.1250C>G | ||
| NR_135906.2:n.691C>G | ||
| NR_135907.2:n.937C>G | ||
| NR_135908.2:n.631C>G | ||
| NR_135909.2:n.1147C>G | ||
| NR_135910.2:n.1497C>G | ||
| NR_135911.2:n.1617C>G | ||
| NR_135912.2:n.2176C>G | ||
| NR_135913.2:n.1863C>G |