Linked Data
ClinVar Variation Id:
2722554
ClinVar RCV Id:
RCV003558958
dbSNP Id:
rs200149183
ExAC:
1:202565891 G / A
gnomAD v2:
1-202565891-G-A
gnomAD v3:
1-202596763-G-A
gnomAD v4:
1-202596763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596763G>A , CM000663.2:g.202596763G>A | GRCh38 |
| NC_000001.10:g.202565891G>A , CM000663.1:g.202565891G>A | GRCh37 |
| NC_000001.9:g.200832514G>A | NCBI36 |
| NG_041776.1:g.118661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.1254C>T MANE Select | ENSP00000356237.4:p.Asn418= | |
| ENST00000367267.5:c.1254C>T | ENSP00000356236.1:p.Asn418= | |
| ENST00000367268.4:c.1254C>T | ENSP00000356237.4:p.Asn418= | |
| NM_001136504.1:c.1254C>T | NP_001129976.1:p.Asn418= | |
| NM_177402.4:c.1254C>T | NP_796376.2:p.Asn418= | |
| XM_011509192.1:c.1263C>T | XP_011507494.1:p.Asn421= | |
| XM_011509192.2:c.1263C>T | XP_011507494.1:p.Asn421= | |
| XM_017000309.2:c.1434C>T | XP_016855798.1:p.Asn478= | |
| XM_017000310.2:c.1425C>T | XP_016855799.1:p.Asn475= | |
| XM_017000311.2:c.1263C>T | XP_016855800.1:p.Asn421= | |
| XM_017000312.1:c.1263C>T | XP_016855801.1:p.Asn421= | |
| XM_017000313.1:c.1254C>T | XP_016855802.1:p.Asn418= | |
| NM_177402.5:c.1254C>T MANE Select | NP_796376.2:p.Asn418= |