Linked Data
ClinVar Variation Id:
260750
ClinVar RCV Id:
RCV000252421
dbSNP Id:
rs886038626
gnomAD v2:
12-115118900-G-T
gnomAD v3:
12-114681095-G-T
gnomAD v4:
12-114681095-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114681095G>T , CM000674.2:g.114681095G>T | GRCh38 |
| NC_000012.11:g.115118900G>T , CM000674.1:g.115118900G>T | GRCh37 |
| NC_000012.10:g.113603283G>T | NCBI36 |
| NG_008315.1:g.8070C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.441C>A MANE Select | ENSP00000257567.2:p.Ala147= | |
| ENST00000257566.7:c.441C>A | ENSP00000257566.3:p.Ala147= | |
| ENST00000349155.6:c.441C>A | ENSP00000257567.2:p.Ala147= | |
| ENST00000552054.1:n.675C>A | ||
| ENST00000613550.1:c.441C>A | ENSP00000480048.1:p.Ala147= | |
| NM_005996.3:c.441C>A | NP_005987.3:p.Ala147= | |
| NM_016569.3:c.441C>A | NP_057653.3:p.Ala147= | |
| NM_005996.4:c.441C>A MANE Select | NP_005987.3:p.Ala147= | |
| NM_016569.4:c.441C>A | NP_057653.3:p.Ala147= |