Linked Data
ClinVar Variation Id:
204124
ClinVar RCV Id:
RCV000186330
dbSNP Id:
rs180177258
COSMIC:
COSM4557417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875155G>C , CM000664.2:g.240875155G>C | GRCh38 |
| NC_000002.11:g.241814572G>C , CM000664.1:g.241814572G>C | GRCh37 |
| NC_000002.10:g.241463245G>C | NCBI36 |
| NG_008005.1:g.11411G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.727G>C MANE Select | ENSP00000302620.3:p.Asp243His | |
| ENST00000307503.3:c.727G>C | ENSP00000302620.3:p.Asp243His | |
| ENST00000476698.1:n.379G>C | ||
| NM_000030.2:c.727G>C | NP_000021.1:p.Asp243His | |
| NM_000030.3:c.727G>C MANE Select | NP_000021.1:p.Asp243His |