Linked Data
ClinVar Variation Id:
2011670
ClinVar RCV Id:
RCV002838584
dbSNP Id:
rs568010677
ExAC:
12:121176682 T / C
gnomAD v2:
12-121176682-T-C
gnomAD v3:
12-120738879-T-C
gnomAD v4:
12-120738879-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738879T>C , CM000674.2:g.120738879T>C | GRCh38 |
| NC_000012.11:g.121176682T>C , CM000674.1:g.121176682T>C | GRCh37 |
| NC_000012.10:g.119661065T>C | NCBI36 |
| NG_007991.1:g.18112T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.993T>C MANE Select | ENSP00000242592.4:p.Ala331= | |
| ENST00000242592.8:c.993T>C | ENSP00000242592.4:p.Ala331= | |
| ENST00000411593.2:c.981T>C | ENSP00000401045.2:p.Ala327= | |
| NM_000017.3:c.993T>C | NP_000008.1:p.Ala331= | |
| NM_001302554.1:c.981T>C | NP_001289483.1:p.Ala327= | |
| NM_000017.4:c.993T>C MANE Select | NP_000008.1:p.Ala331= | |
| NM_001302554.2:c.981T>C | NP_001289483.1:p.Ala327= |