Linked Data
ClinVar Variation Id:
2980657
ClinVar RCV Id:
RCV003839815
dbSNP Id:
rs1227692428
gnomAD v2:
X-47433562-C-A
gnomAD v3:
X-47574163-C-A
gnomAD v4:
X-47574163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574163C>A , CM000685.2:g.47574163C>A | GRCh38 |
| NC_000023.10:g.47433562C>A , CM000685.1:g.47433562C>A | GRCh37 |
| NC_000023.9:g.47318506C>A | NCBI36 |
| NG_008437.1:g.50695G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1821G>T MANE Select | ENSP00000295987.7:p.Ala607= | |
| ENST00000340666.5:c.1821G>T | ENSP00000343206.4:p.Ala607= | |
| ENST00000640721.1:c.70+525G>T | ENSP00000492857.1:n.70+525G>T | |
| ENST00000295987.11:c.1821G>T | ENSP00000295987.7:p.Ala607= | |
| ENST00000340666.4:c.1821G>T | ENSP00000343206.4:p.Ala607= | |
| NM_006950.3:c.1821G>T MANE Select | NP_008881.2:p.Ala607= | |
| NM_133499.2:c.1821G>T | NP_598006.1:p.Ala607= |