Linked Data
ClinVar Variation Id:
181452
dbSNP Id:
rs34302553
ExAC:
18:21119839 C / T
gnomAD v2:
18-21119839-C-T
gnomAD v3:
18-23539875-C-T
gnomAD v4:
18-23539875-C-T
COSMIC:
COSM3403469
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539875C>T , CM000680.2:g.23539875C>T | GRCh38 |
| NC_000018.9:g.21119839C>T , CM000680.1:g.21119839C>T | GRCh37 |
| NC_000018.8:g.19373837C>T | NCBI36 |
| NG_012795.1:g.51743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2731G>A MANE Select | ENSP00000269228.4:p.Gly911Ser | |
| ENST00000269228.9:c.2731G>A | ENSP00000269228.4:p.Gly911Ser | |
| ENST00000540608.5:n.2645G>A | ||
| ENST00000586718.1:n.522G>A | ||
| ENST00000591051.1:c.1809G>A | ||
| ENST00000591075.1:n.24G>A | ||
| NM_000271.4:c.2731G>A | NP_000262.2:p.Gly911Ser | |
| XM_005258277.1:c.2782G>A | XP_005258334.1:p.Gly928Ser | |
| XM_005258278.3:c.2782G>A | XP_005258335.1:p.Gly928Ser | |
| XM_005258279.1:c.2731G>A | XP_005258336.1:p.Gly911Ser | |
| XM_006722479.2:c.2782G>A | XP_006722542.1:p.Gly928Ser | |
| XM_011526015.1:c.2317G>A | XP_011524317.1:p.Gly773Ser | |
| XM_005258278.5:c.2782G>A | XP_005258335.1:p.Gly928Ser | |
| XM_005258279.2:c.2731G>A | XP_005258336.1:p.Gly911Ser | |
| XM_006722479.3:c.2782G>A | XP_006722542.1:p.Gly928Ser | |
| XM_017025784.1:c.2782G>A | XP_016881273.1:p.Gly928Ser | |
| XM_017025785.1:c.2782G>A | XP_016881274.1:p.Gly928Ser | |
| XM_017025786.1:c.2731G>A | XP_016881275.1:p.Gly911Ser | |
| XM_017025787.1:c.2731G>A | XP_016881276.1:p.Gly911Ser | |
| NM_000271.5:c.2731G>A MANE Select | NP_000262.2:p.Gly911Ser |