Linked Data
ClinVar Variation Id:
1955333
ClinVar RCV Id:
RCV002695317
dbSNP Id:
rs911413010
gnomAD v2:
1-202565958-C-T
gnomAD v3:
1-202596830-C-T
gnomAD v4:
1-202596830-C-T
COSMIC:
COSM6032460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596830C>T , CM000663.2:g.202596830C>T | GRCh38 |
| NC_000001.10:g.202565958C>T , CM000663.1:g.202565958C>T | GRCh37 |
| NC_000001.9:g.200832581C>T | NCBI36 |
| NG_041776.1:g.118594G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1187G>A MANE Select | ENSP00000356237.4:p.Arg396Gln | |
| ENST00000367267.5:c.1187G>A | ENSP00000356236.1:p.Arg396Gln | |
| ENST00000367268.4:c.1187G>A | ENSP00000356237.4:p.Arg396Gln | |
| NM_001136504.1:c.1187G>A | NP_001129976.1:p.Arg396Gln | |
| NM_177402.4:c.1187G>A | NP_796376.2:p.Arg396Gln | |
| XM_011509192.1:c.1196G>A | XP_011507494.1:p.Arg399Gln | |
| XM_011509192.2:c.1196G>A | XP_011507494.1:p.Arg399Gln | |
| XM_017000309.2:c.1367G>A | XP_016855798.1:p.Arg456Gln | |
| XM_017000310.2:c.1358G>A | XP_016855799.1:p.Arg453Gln | |
| XM_017000311.2:c.1196G>A | XP_016855800.1:p.Arg399Gln | |
| XM_017000312.1:c.1196G>A | XP_016855801.1:p.Arg399Gln | |
| XM_017000313.1:c.1187G>A | XP_016855802.1:p.Arg396Gln | |
| NM_177402.5:c.1187G>A MANE Select | NP_796376.2:p.Arg396Gln |