Linked Data
ClinVar Variation Id:
1132963
ClinVar RCV Id:
RCV001467382
dbSNP Id:
rs1177328581
gnomAD v2:
2-241818154-C-T
gnomAD v4:
2-240878737-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878737C>T , CM000664.2:g.240878737C>T | GRCh38 |
| NC_000002.11:g.241818154C>T , CM000664.1:g.241818154C>T | GRCh37 |
| NC_000002.10:g.241466827C>T | NCBI36 |
| NG_008005.1:g.14993C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1095C>T MANE Select | ENSP00000302620.3:p.Gly365= | |
| ENST00000307503.3:c.1095C>T | ENSP00000302620.3:p.Gly365= | |
| ENST00000470255.1:n.873C>T | ||
| NM_000030.2:c.1095C>T | NP_000021.1:p.Gly365= | |
| NM_000030.3:c.1095C>T MANE Select | NP_000021.1:p.Gly365= |