Linked Data
ClinVar Variation Id:
1805650
ClinVar RCV Id:
RCV002472068
dbSNP Id:
rs750292546
gnomAD v2:
18-21136221-G-T
gnomAD v4:
18-23556257-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23556257G>T , CM000680.2:g.23556257G>T | GRCh38 |
| NC_000018.9:g.21136221G>T , CM000680.1:g.21136221G>T | GRCh37 |
| NC_000018.8:g.19390219G>T | NCBI36 |
| NG_012795.1:g.35361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1312C>A MANE Select | ENSP00000269228.4:p.Gln438Lys | |
| ENST00000269228.9:c.1312C>A | ENSP00000269228.4:p.Gln438Lys | |
| ENST00000540608.5:n.1226C>A | ||
| ENST00000591051.1:c.594C>A | ||
| NM_000271.4:c.1312C>A | NP_000262.2:p.Gln438Lys | |
| XM_005258277.1:c.1363C>A | XP_005258334.1:p.Gln455Lys | |
| XM_005258278.3:c.1363C>A | XP_005258335.1:p.Gln455Lys | |
| XM_005258279.1:c.1312C>A | XP_005258336.1:p.Gln438Lys | |
| XM_006722479.2:c.1363C>A | XP_006722542.1:p.Gln455Lys | |
| XM_011526015.1:c.898C>A | XP_011524317.1:p.Gln300Lys | |
| XM_005258278.5:c.1363C>A | XP_005258335.1:p.Gln455Lys | |
| XM_005258279.2:c.1312C>A | XP_005258336.1:p.Gln438Lys | |
| XM_006722479.3:c.1363C>A | XP_006722542.1:p.Gln455Lys | |
| XM_017025784.1:c.1363C>A | XP_016881273.1:p.Gln455Lys | |
| XM_017025785.1:c.1363C>A | XP_016881274.1:p.Gln455Lys | |
| XM_017025786.1:c.1312C>A | XP_016881275.1:p.Gln438Lys | |
| XM_017025787.1:c.1312C>A | XP_016881276.1:p.Gln438Lys | |
| NM_000271.5:c.1312C>A MANE Select | NP_000262.2:p.Gln438Lys |