Linked Data
ClinVar Variation Id:
309304
ClinVar RCV Id:
RCV000390498
dbSNP Id:
rs550969378
ExAC:
12:51382131 C / T
gnomAD v2:
12-51382131-C-T
gnomAD v3:
12-50988348-C-T
gnomAD v4:
12-50988348-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50988348C>T , CM000674.2:g.50988348C>T | GRCh38 |
| NC_000012.11:g.51382131C>T , CM000674.1:g.51382131C>T | GRCh37 |
| NC_000012.10:g.49668398C>T | NCBI36 |
| NG_021139.1:g.44928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394904.9:c.1750G>A | ENSP00000378364.3:p.Ala584Thr | |
| ENST00000545993.7:c.1651G>A | ENSP00000442810.2:p.Ala551Thr | |
| ENST00000547688.7:c.1716+34G>A | ENSP00000449200.2:n.1716+34G>A | |
| ENST00000642227.1:c.*1248G>A | ENSP00000494696.1:n.*1248G>A | |
| ENST00000643123.1:n.827G>A | ||
| ENST00000643884.1:c.1699G>A | ENSP00000493633.1:p.Ala567Thr | |
| ENST00000644495.1:c.1629+34G>A | ENSP00000494107.1:n.1629+34G>A | |
| ENST00000646264.1:c.1311+34G>A | ||
| ENST00000646740.1:c.*949G>A | ENSP00000494001.1:n.*949G>A | |
| ENST00000262051.11:c.1629+34G>A | ENSP00000262051.7:n.1629+34G>A | |
| ENST00000262052.9:c.1663G>A MANE Select | ENSP00000262052.5:p.Ala555Thr | |
| ENST00000394904.7:c.1750G>A | ENSP00000378364.3:p.Ala584Thr | |
| ENST00000541174.6:c.1663G>A | ENSP00000444542.2:p.Ala555Thr | |
| ENST00000545993.6:c.1651G>A | ENSP00000442810.2:p.Ala551Thr | |
| ENST00000546636.5:c.1629+34G>A | ENSP00000449008.1:n.1629+34G>A | |
| ENST00000546743.5:c.1426G>A | ENSP00000446914.1:p.Ala476Thr | |
| ENST00000547198.5:c.1629+34G>A | ENSP00000446769.1:n.1629+34G>A | |
| ENST00000547688.5:c.1750G>A | ENSP00000449200.1:p.Ala584Thr | |
| ENST00000550782.5:n.1135G>A | ||
| ENST00000551215.5:c.302+34G>A | ||
| NM_000617.2:c.1663G>A | NP_000608.1:p.Ala555Thr | |
| NM_001174125.1:c.1750G>A | NP_001167596.1:p.Ala584Thr | |
| NM_001174126.1:c.1629+34G>A | NP_001167597.1:n.1629+34G>A | |
| NM_001174127.1:c.1629+34G>A | NP_001167598.1:n.1629+34G>A | |
| NM_001174128.1:c.1663G>A | NP_001167599.1:p.Ala555Thr | |
| NM_001174129.1:c.1663G>A | NP_001167600.1:p.Ala555Thr | |
| NM_001174130.1:c.1651G>A | NP_001167601.1:p.Ala551Thr | |
| NR_033421.1:n.1728G>A | ||
| NR_033422.1:n.1769+34G>A | ||
| XM_005268911.2:c.1716+34G>A | XP_005268968.1:n.1716+34G>A | |
| XM_005268912.3:c.1617+34G>A | XP_005268969.1:n.1617+34G>A | |
| XM_005268913.2:c.1518+34G>A | XP_005268970.1:n.1518+34G>A | |
| XM_005268914.2:c.1518+34G>A | XP_005268971.1:n.1518+34G>A | |
| XM_011538404.1:c.1629+34G>A | XP_011536706.1:n.1629+34G>A | |
| XM_011538405.1:c.1629+34G>A | XP_011536707.1:n.1629+34G>A | |
| XM_011538406.1:c.1392+34G>A | XP_011536708.1:n.1392+34G>A | |
| XR_429104.1:n.1826+34G>A | ||
| XR_944555.1:n.1826+34G>A | ||
| XM_005268911.3:c.1716+34G>A | XP_005268968.1:n.1716+34G>A | |
| XM_005268912.5:c.1617+34G>A | XP_005268969.1:n.1617+34G>A | |
| XM_011538404.3:c.1629+34G>A | XP_011536706.1:n.1629+34G>A | |
| XM_011538405.3:c.1629+34G>A | XP_011536707.1:n.1629+34G>A | |
| XM_017019355.2:c.1629+34G>A | XP_016874844.1:n.1629+34G>A | |
| XM_017019356.2:c.1392+34G>A | XP_016874845.1:n.1392+34G>A | |
| XR_001748720.1:n.1826+34G>A | ||
| XR_001748721.2:n.1744+34G>A | ||
| XR_001748722.2:n.1752+34G>A | ||
| XR_001748723.2:n.1752+34G>A | ||
| NM_000617.3:c.1663G>A MANE Select | NP_000608.1:p.Ala555Thr | |
| NM_001174125.2:c.1750G>A | NP_001167596.1:p.Ala584Thr | |
| NM_001174128.2:c.1663G>A | NP_001167599.1:p.Ala555Thr | |
| NM_001174130.2:c.1651G>A | NP_001167601.1:p.Ala551Thr | |
| NR_033421.2:n.1696G>A | ||
| NR_033422.2:n.1737+34G>A | ||
| NM_001174126.2:c.1629+34G>A | NP_001167597.1:n.1629+34G>A | |
| NM_001174127.2:c.1629+34G>A | NP_001167598.1:n.1629+34G>A | |
| NM_001379446.1:c.1716+34G>A | NP_001366375.1:n.1716+34G>A | |
| NM_001379447.1:c.1629+34G>A | NP_001366376.1:n.1629+34G>A | |
| NM_001379448.1:c.1617+34G>A | NP_001366377.1:n.1617+34G>A | |
| NM_001379455.1:c.1750G>A | NP_001366384.1:p.Ala584Thr | |
| NR_166668.1:n.1742+34G>A | ||
| NR_166669.1:n.1737+34G>A | ||
| NR_166670.1:n.1742+34G>A |