Linked Data
ClinVar Variation Id:
2971
dbSNP Id:
rs120074135
gnomAD v2:
18-21119382-C-T
gnomAD v3:
18-23539418-C-T
gnomAD v4:
18-23539418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539418C>T , CM000680.2:g.23539418C>T | GRCh38 |
| NC_000018.9:g.21119382C>T , CM000680.1:g.21119382C>T | GRCh37 |
| NC_000018.8:g.19373380C>T | NCBI36 |
| NG_012795.1:g.52200G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.2848G>A MANE Select | ENSP00000269228.4:p.Val950Met | |
| ENST00000269228.9:c.2848G>A | ENSP00000269228.4:p.Val950Met | |
| ENST00000591051.1:c.1926G>A | ||
| ENST00000591075.1:n.481G>A | ||
| NM_000271.4:c.2848G>A | NP_000262.2:p.Val950Met | |
| XM_005258277.1:c.2899G>A | XP_005258334.1:p.Val967Met | |
| XM_005258278.3:c.2899G>A | XP_005258335.1:p.Val967Met | |
| XM_005258279.1:c.2848G>A | XP_005258336.1:p.Val950Met | |
| XM_006722479.2:c.2899G>A | XP_006722542.1:p.Val967Met | |
| XM_011526015.1:c.2434G>A | XP_011524317.1:p.Val812Met | |
| XM_005258278.5:c.2899G>A | XP_005258335.1:p.Val967Met | |
| XM_005258279.2:c.2848G>A | XP_005258336.1:p.Val950Met | |
| XM_006722479.3:c.2899G>A | XP_006722542.1:p.Val967Met | |
| XM_017025784.1:c.2899G>A | XP_016881273.1:p.Val967Met | |
| XM_017025785.1:c.2899G>A | XP_016881274.1:p.Val967Met | |
| XM_017025786.1:c.2848G>A | XP_016881275.1:p.Val950Met | |
| XM_017025787.1:c.2848G>A | XP_016881276.1:p.Val950Met | |
| NM_000271.5:c.2848G>A MANE Select | NP_000262.2:p.Val950Met |