Linked Data
ClinVar Variation Id:
2844387
ClinVar RCV Id:
RCV003652474
dbSNP Id:
rs561149651
ExAC:
2:61275597 T / C
gnomAD v2:
2-61275597-T-C
gnomAD v3:
2-61048462-T-C
gnomAD v4:
2-61048462-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61048462T>C , CM000664.2:g.61048462T>C | GRCh38 |
| NC_000002.11:g.61275597T>C , CM000664.1:g.61275597T>C | GRCh37 |
| NC_000002.10:g.61129101T>C | NCBI36 |
| NG_008665.1:g.35786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295030.6:c.914-10T>C MANE Select | ENSP00000295030.4:n.914-10T>C | |
| ENST00000295030.5:c.914-10T>C | ENSP00000295030.4:n.914-10T>C | |
| NM_002618.3:c.914-10T>C | NP_002609.1:n.914-10T>C | |
| XM_011532904.1:c.797-10T>C | XP_011531206.1:n.797-10T>C | |
| NM_002618.4:c.914-10T>C MANE Select | NP_002609.1:n.914-10T>C |