Linked Data
ClinVar Variation Id:
56555
ClinVar RCV Id:
RCV000049968
dbSNP Id:
rs386833991
PubMed:
PMID:10947946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73641907C>T , CM000668.2:g.73641907C>T | GRCh38 |
| NC_000006.11:g.74351630C>T , CM000668.1:g.74351630C>T | GRCh37 |
| NC_000006.10:g.74408351C>T | NCBI36 |
| NG_008272.1:g.17108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.309G>A MANE Select | ENSP00000348019.5:p.Trp103Ter | |
| ENST00000355773.5:c.309G>A | ENSP00000348019.5:p.Trp103Ter | |
| ENST00000481996.1:n.75G>A | ||
| NM_012434.4:c.309G>A | NP_036566.1:p.Trp103Ter | |
| XM_005248710.2:c.258G>A | XP_005248767.1:p.Trp86Ter | |
| XM_005248711.1:c.111G>A | XP_005248768.1:p.Trp37Ter | |
| XM_011535750.1:c.309G>A | XP_011534052.1:p.Trp103Ter | |
| XM_011535751.1:c.309G>A | XP_011534053.1:p.Trp103Ter | |
| NM_012434.5:c.309G>A MANE Select | NP_036566.1:p.Trp103Ter | |
| NM_001382629.1:c.78G>A | NP_001369558.1:p.Trp26Ter | |
| NM_001382630.1:c.309G>A | NP_001369559.1:p.Trp103Ter | |
| NM_001382631.1:c.330G>A | NP_001369560.1:p.Trp110Ter | |
| NM_001382632.1:c.309G>A | NP_001369561.1:p.Trp103Ter | |
| NM_001382633.1:c.309G>A | NP_001369562.1:p.Trp103Ter | |
| NM_001382634.1:c.309G>A | NP_001369563.1:p.Trp103Ter | |
| NM_001382635.1:c.309G>A | NP_001369564.1:p.Trp103Ter | |
| NM_001382636.1:c.78G>A | NP_001369565.1:p.Trp26Ter |