Linked Data
ClinVar Variation Id:
914721
ClinVar RCV Id:
RCV001169030
dbSNP Id:
rs1588623321
gnomAD v4:
9-136196755-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136196755G>T , CM000671.2:g.136196755G>T | GRCh38 |
| NC_000009.11:g.139088601G>T , CM000671.1:g.139088601G>T | GRCh37 |
| NC_000009.10:g.138228422G>T | NCBI36 |
| NG_008097.1:g.13355C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371746.9:c.*570C>A | ENSP00000360811.3:n.*570C>A | |
| ENST00000371748.10:c.*570C>A MANE Select | ENSP00000360813.4:n.*570C>A | |
| ENST00000645419.1:n.2589C>A | ||
| ENST00000371746.7:c.*570C>A | ENSP00000360811.3:n.*570C>A | |
| ENST00000371748.9:c.*570C>A | ENSP00000360813.4:n.*570C>A | |
| ENST00000619587.1:c.*570C>A | ENSP00000483080.1:n.*570C>A | |
| NM_014564.3:c.*570C>A | NP_055379.1:n.*570C>A | |
| NM_178138.4:c.*570C>A | NP_835258.1:n.*570C>A | |
| XM_005263410.1:c.*570C>A | XP_005263467.1:n.*570C>A | |
| NM_001363746.1:c.*570C>A | NP_001350675.1:n.*570C>A | |
| NM_014564.4:c.*570C>A | NP_055379.1:n.*570C>A | |
| NM_178138.5:c.*570C>A | NP_835258.1:n.*570C>A | |
| XM_017015168.1:c.1692C>A | XP_016870657.1:n.1692C>A | |
| NM_178138.6:c.*570C>A MANE Select | NP_835258.1:n.*570C>A | |
| NM_014564.5:c.*570C>A | NP_055379.1:n.*570C>A |