Linked Data
ClinVar Variation Id:
21309
dbSNP Id:
rs2307447
ExAC:
15:89869919 G / A
gnomAD v2:
15-89869919-G-A
gnomAD v3:
15-89326688-G-A
gnomAD v4:
15-89326688-G-A
PubMed:
PMID:20301791
ERepo:
CA292876/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326688G>A , CM000677.2:g.89326688G>A | GRCh38 |
| NC_000015.9:g.89869919G>A , CM000677.1:g.89869919G>A | GRCh37 |
| NC_000015.8:g.87670923G>A | NCBI36 |
| NG_008218.1:g.13108C>T | |
| NG_008218.2:g.13108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1636C>T | ENSP00000516154.1:p.Arg546Cys | |
| ENST00000268124.11:c.1636C>T MANE Select | ENSP00000268124.5:p.Arg546Cys | |
| ENST00000530292.3:c.1237C>T | ENSP00000432885.2:p.Arg413Cys | |
| ENST00000635986.2:c.1636C>T | ENSP00000490653.2:p.Arg546Cys | |
| ENST00000636774.1:c.*203C>T | ENSP00000489799.1:n.*203C>T | |
| ENST00000637238.1:c.373C>T | ENSP00000490756.1:p.Arg125Cys | |
| ENST00000637264.1:c.708C>T | ||
| ENST00000666746.1:c.1213C>T | ||
| ENST00000672071.1:n.1834C>T | ||
| ENST00000672923.2:n.1739C>T | ||
| ENST00000268124.9:c.1636C>T | ENSP00000268124.5:p.Arg546Cys | |
| ENST00000442287.6:c.1636C>T | ENSP00000399851.2:p.Arg546Cys | |
| ENST00000526314.2:c.18C>T | ||
| ENST00000631044.2:c.*1019C>T | ENSP00000486730.1:n.*1019C>T | |
| NM_001126131.1:c.1636C>T | NP_001119603.1:p.Arg546Cys | |
| NM_002693.2:c.1636C>T | NP_002684.1:p.Arg546Cys | |
| NM_001126131.2:c.1636C>T | NP_001119603.1:p.Arg546Cys | |
| NM_002693.3:c.1636C>T MANE Select | NP_002684.1:p.Arg546Cys |