Linked Data
ClinVar Variation Id:
204112
ClinVar RCV Id:
RCV000186318
dbSNP Id:
rs180177243
gnomAD v2:
2-241812454-A-C
gnomAD v4:
2-240873037-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873037A>C , CM000664.2:g.240873037A>C | GRCh38 |
| NC_000002.11:g.241812454A>C , CM000664.1:g.241812454A>C | GRCh37 |
| NC_000002.10:g.241461127A>C | NCBI36 |
| NG_008005.1:g.9293A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.583A>C MANE Select | ENSP00000302620.3:p.Met195Leu | |
| ENST00000307503.3:c.583A>C | ENSP00000302620.3:p.Met195Leu | |
| ENST00000472436.1:n.603A>C | ||
| ENST00000476698.1:n.320A>C | ||
| NM_000030.2:c.583A>C | NP_000021.1:p.Met195Leu | |
| NM_000030.3:c.583A>C MANE Select | NP_000021.1:p.Met195Leu |