Linked Data
dbSNP Id:
rs768634109
ExAC:
1:202566086 G / T
gnomAD v2:
1-202566086-G-T
gnomAD v4:
1-202596958-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596958G>T , CM000663.2:g.202596958G>T | GRCh38 |
| NC_000001.10:g.202566086G>T , CM000663.1:g.202566086G>T | GRCh37 |
| NC_000001.9:g.200832709G>T | NCBI36 |
| NG_041776.1:g.118466C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1059C>A MANE Select | ENSP00000356237.4:p.Val353= | |
| ENST00000367267.5:c.1059C>A | ENSP00000356236.1:p.Val353= | |
| ENST00000367268.4:c.1059C>A | ENSP00000356237.4:p.Val353= | |
| NM_001136504.1:c.1059C>A | NP_001129976.1:p.Val353= | |
| NM_177402.4:c.1059C>A | NP_796376.2:p.Val353= | |
| XM_011509192.1:c.1068C>A | XP_011507494.1:p.Val356= | |
| XM_011509192.2:c.1068C>A | XP_011507494.1:p.Val356= | |
| XM_017000309.2:c.1239C>A | XP_016855798.1:p.Val413= | |
| XM_017000310.2:c.1230C>A | XP_016855799.1:p.Val410= | |
| XM_017000311.2:c.1068C>A | XP_016855800.1:p.Val356= | |
| XM_017000312.1:c.1068C>A | XP_016855801.1:p.Val356= | |
| XM_017000313.1:c.1059C>A | XP_016855802.1:p.Val353= | |
| NM_177402.5:c.1059C>A MANE Select | NP_796376.2:p.Val353= |