Linked Data
ClinVar Variation Id:
711336
ClinVar RCV Id:
RCV000883077
dbSNP Id:
rs142938499
ExAC:
7:38431470 G / A
gnomAD v2:
7-38431470-G-A
gnomAD v3:
7-38391869-G-A
gnomAD v4:
7-38391869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.38391869G>A , CM000669.2:g.38391869G>A | GRCh38 |
| NC_000007.13:g.38431470G>A , CM000669.1:g.38431470G>A | GRCh37 |
| NC_000007.12:g.38397995G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356264.7:c.1757C>T MANE Select | ENSP00000348602.2:p.Thr586Met | |
| ENST00000325590.9:c.1631C>T | ENSP00000317441.5:p.Thr544Met | |
| ENST00000356264.6:c.1757C>T | ENSP00000348602.2:p.Thr586Met | |
| ENST00000441628.5:c.1404C>T | ||
| ENST00000460887.1:n.251C>T | ||
| NM_001635.3:c.1757C>T | NP_001626.1:p.Thr586Met | |
| NM_139316.2:c.1631C>T | NP_647477.1:p.Thr544Met | |
| XM_006715689.2:c.3347C>T | XP_006715752.1:p.Thr1116Met | |
| XM_006715690.2:c.2129C>T | XP_006715753.1:p.Thr710Met | |
| XM_011515271.1:c.2255C>T | XP_011513573.1:p.Thr752Met | |
| XM_006715689.4:c.3347C>T | XP_006715752.1:p.Thr1116Met | |
| XM_006715690.4:c.2129C>T | XP_006715753.1:p.Thr710Met | |
| XM_011515271.3:c.2255C>T | XP_011513573.1:p.Thr752Met | |
| XM_017011995.2:c.3473C>T | XP_016867484.1:p.Thr1158Met | |
| XM_017011996.2:c.2435C>T | XP_016867485.1:p.Thr812Met | |
| NM_001635.4:c.1757C>T MANE Select | NP_001626.1:p.Thr586Met | |
| NM_139316.3:c.1631C>T | NP_647477.1:p.Thr544Met |