Linked Data
ClinVar Variation Id:
204066
ClinVar RCV Id:
RCV000186272
dbSNP Id:
rs180177213
gnomAD v4:
2-240868868-G-T
PubMed:
PMID:19479957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868868G>T , CM000664.2:g.240868868G>T | GRCh38 |
| NC_000002.11:g.241808285G>T , CM000664.1:g.241808285G>T | GRCh37 |
| NC_000002.10:g.241456958G>T | NCBI36 |
| NG_008005.1:g.5124G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.3G>T MANE Select | ENSP00000302620.3:p.Met1Ile | |
| ENST00000307503.3:c.3G>T | ENSP00000302620.3:p.Met1Ile | |
| ENST00000472436.1:n.23G>T | ||
| NM_000030.2:c.3G>T | NP_000021.1:p.Met1Ile | |
| XR_924060.1:n.405+1365C>A | ||
| NM_000030.3:c.3G>T MANE Select | NP_000021.1:p.Met1Ile |