Linked Data
ClinVar Variation Id:
438003
ClinVar RCV Id:
RCV000504870
dbSNP Id:
rs1553257685
gnomAD v4:
1-215743218-G-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215743218G>A , CM000663.2:g.215743218G>A | GRCh38 |
| NC_000001.10:g.215916560G>A , CM000663.1:g.215916560G>A | GRCh37 |
| NC_000001.9:g.213983183G>A | NCBI36 |
| NG_009497.1:g.685179C>T | |
| NG_009497.2:g.685231C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11507C>T MANE Select | ENSP00000305941.3:p.Pro3836Leu | |
| ENST00000674083.1:c.11507C>T | ENSP00000501296.1:p.Pro3836Leu | |
| ENST00000307340.7:c.11507C>T | ENSP00000305941.3:p.Pro3836Leu | |
| NM_206933.2:c.11507C>T | NP_996816.2:p.Pro3836Leu | |
| NM_206933.3:c.11507C>T | NP_996816.2:p.Pro3836Leu | |
| NM_206933.4:c.11507C>T MANE Select | NP_996816.3:p.Pro3836Leu |