Linked Data
ClinVar Variation Id:
3049011
ClinVar RCV Id:
RCV003944391
dbSNP Id:
rs781132322
ExAC:
16:5078988 C / T
gnomAD v2:
16-5078988-C-T
gnomAD v3:
16-5028987-C-T
gnomAD v4:
16-5028987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5028987C>T , CM000678.2:g.5028987C>T | GRCh38 |
| NC_000016.9:g.5078988C>T , CM000678.1:g.5078988C>T | GRCh37 |
| NC_000016.8:g.5018989C>T | NCBI36 |
| NG_028152.1:g.9955G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.813G>A MANE Select | ENSP00000310998.3:p.Ala271= | |
| ENST00000649828.1:c.813G>A | ENSP00000498032.1:p.Ala271= | |
| ENST00000312251.7:c.813G>A | ENSP00000310998.3:p.Ala271= | |
| ENST00000381955.7:c.813G>A | ENSP00000371381.3:p.Ala271= | |
| ENST00000562037.1:c.574G>A | ENSP00000464994.1:n.574G>A | |
| ENST00000562346.2:c.505-802G>A | ||
| ENST00000562746.5:c.813G>A | ENSP00000455900.1:p.Ala271= | |
| ENST00000563578.5:c.631G>A | ||
| ENST00000564397.5:n.1172G>A | ||
| ENST00000565876.5:c.480+1398G>A | ||
| ENST00000567739.5:n.132G>A | ||
| ENST00000568202.5:n.676G>A | ||
| ENST00000569296.5:c.357G>A | ENSP00000465949.1:p.Ala119= | |
| NM_016256.3:c.813G>A | NP_057340.2:p.Ala271= | |
| XM_011522517.1:c.813G>A | XP_011520819.1:p.Ala271= | |
| XM_011522518.1:c.813G>A | XP_011520820.1:p.Ala271= | |
| XM_011522519.1:c.813G>A | XP_011520821.1:p.Ala271= | |
| XR_243285.1:n.840G>A | ||
| XM_011522517.3:c.813G>A | XP_011520819.1:p.Ala271= | |
| XR_001751908.2:n.839G>A | ||
| XR_001751909.2:n.839G>A | ||
| XR_001751910.2:n.839G>A | ||
| XR_001751911.2:n.839G>A | ||
| XR_001751912.2:n.839G>A | ||
| NM_016256.4:c.813G>A MANE Select | NP_057340.2:p.Ala271= |