Linked Data
ClinVar Variation Id:
3305
ClinVar RCV Id:
RCV000003468
dbSNP Id:
rs267607219
ExAC:
3:185252648 A / G
gnomAD v2:
3-185252648-A-G
gnomAD v4:
3-185534860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185534860A>G , CM000665.2:g.185534860A>G | GRCh38 |
| NC_000003.11:g.185252648A>G , CM000665.1:g.185252648A>G | GRCh37 |
| NC_000003.10:g.186735342A>G | NCBI36 |
| NG_012183.1:g.22722T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296252.9:c.322T>C MANE Select | ENSP00000296252.4:p.Trp108Arg | |
| ENST00000296252.8:c.322T>C | ENSP00000296252.4:p.Trp108Arg | |
| ENST00000424591.6:c.322T>C | ENSP00000396384.2:p.Trp108Arg | |
| ENST00000429510.1:c.*274T>C | ENSP00000414311.1:n.*274T>C | |
| NM_139248.2:c.322T>C | NP_640341.1:p.Trp108Arg | |
| XM_006713529.2:c.322T>C | XP_006713592.1:p.Trp108Arg | |
| XM_011512530.1:c.193T>C | XP_011510832.1:p.Trp65Arg | |
| XM_011512531.1:c.193T>C | XP_011510833.1:p.Trp65Arg | |
| XM_006713529.4:c.322T>C | XP_006713592.1:p.Trp108Arg | |
| XM_011512530.3:c.193T>C | XP_011510832.1:p.Trp65Arg | |
| XM_011512531.3:c.193T>C | XP_011510833.1:p.Trp65Arg | |
| XM_017005852.2:c.322T>C | XP_016861341.1:p.Trp108Arg | |
| NM_139248.3:c.322T>C MANE Select | NP_640341.1:p.Trp108Arg |