Linked Data
ClinVar Variation Id:
204101
ClinVar RCV Id:
RCV000186307
dbSNP Id:
rs180177222
PubMed:
PMID:17495019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871374T>C , CM000664.2:g.240871374T>C | GRCh38 |
| NC_000002.11:g.241810791T>C , CM000664.1:g.241810791T>C | GRCh37 |
| NC_000002.10:g.241459464T>C | NCBI36 |
| NG_008005.1:g.7630T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.449T>C MANE Select | ENSP00000302620.3:p.Leu150Pro | |
| ENST00000307503.3:c.449T>C | ENSP00000302620.3:p.Leu150Pro | |
| ENST00000472436.1:n.469T>C | ||
| ENST00000476698.1:n.186T>C | ||
| NM_000030.2:c.449T>C | NP_000021.1:p.Leu150Pro | |
| NM_000030.3:c.449T>C MANE Select | NP_000021.1:p.Leu150Pro |