Linked Data
ClinVar Variation Id:
30520
dbSNP Id:
rs199469640
ExAC:
5:136975563 C / A
gnomAD v2:
5-136975563-C-A
gnomAD v4:
5-137639874-C-A
PubMed:
PMID:22266938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639874C>A , CM000667.2:g.137639874C>A | GRCh38 |
| NC_000005.9:g.136975563C>A , CM000667.1:g.136975563C>A | GRCh37 |
| NC_000005.8:g.137003462C>A | NCBI36 |
| NG_032569.1:g.101217G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309755.9:c.1007G>T MANE Select | ENSP00000312397.4:p.Arg336Ile | |
| ENST00000309755.8:c.1007G>T | ENSP00000312397.4:p.Arg336Ile | |
| ENST00000502381.1:n.594G>T | ||
| ENST00000504208.5:c.*335-11437G>T | ENSP00000423585.1:n.*335-11437G>T | |
| ENST00000505853.1:c.887G>T | ENSP00000426173.1:p.Arg296Ile | |
| ENST00000506491.5:c.761G>T | ENSP00000424828.1:p.Arg254Ile | |
| ENST00000506873.5:n.632G>T | ||
| ENST00000508657.5:c.911G>T | ENSP00000422099.1:p.Arg304Ile | |
| NM_001257194.1:c.911G>T | NP_001244123.1:p.Arg304Ile | |
| NM_001257195.1:c.761G>T | NP_001244124.1:p.Arg254Ile | |
| NM_017415.2:c.1007G>T | NP_059111.2:p.Arg336Ile | |
| NM_017415.3:c.1007G>T MANE Select | NP_059111.2:p.Arg336Ile | |
| NM_001257195.2:c.761G>T | NP_001244124.1:p.Arg254Ile |