Linked Data
ClinVar Variation Id:
6423
ClinVar RCV Id:
RCV000006792
dbSNP Id:
rs68018207
PubMed:
PMID:11058897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132389020T>C , CM000667.2:g.132389020T>C | GRCh38 |
| NC_000005.9:g.131724712T>C , CM000667.1:g.131724712T>C | GRCh37 |
| NC_000005.8:g.131752611T>C | NCBI36 |
| NG_008982.1:g.24312T>C | |
| NG_008982.2:g.24317T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.892T>C | ENSP00000388838.2:p.Trp298Arg | |
| ENST00000435065.7:c.1123T>C | ENSP00000402760.2:p.Trp375Arg | |
| ENST00000448810.6:c.1051T>C | ENSP00000401860.2:p.Cys351Arg | |
| ENST00000685543.1:n.1192T>C | ||
| ENST00000686757.1:c.*215T>C | ENSP00000510721.1:n.*215T>C | |
| ENST00000687740.1:n.3736T>C | ||
| ENST00000688151.1:n.2361T>C | ||
| ENST00000689271.1:c.898T>C | ENSP00000510797.1:p.Trp300Arg | |
| ENST00000690900.1:c.*215T>C | ENSP00000510703.1:n.*215T>C | |
| ENST00000692212.1:n.995T>C | ||
| ENST00000692355.1:c.304T>C | ||
| ENST00000692413.1:c.1033T>C | ENSP00000509374.1:p.Trp345Arg | |
| ENST00000692825.1:c.1119T>C | ENSP00000509447.1:n.1119T>C | |
| ENST00000693308.1:c.1099T>C | ENSP00000509770.1:p.Trp367Arg | |
| ENST00000693763.1:n.2211T>C | ||
| ENST00000245407.8:c.1051T>C MANE Select | ENSP00000245407.3:p.Trp351Arg | |
| ENST00000245407.7:c.1051T>C | ENSP00000245407.3:p.Trp351Arg | |
| ENST00000435065.6:c.1123T>C | ENSP00000402760.2:p.Trp375Arg | |
| ENST00000447841.5:c.110T>C | ||
| ENST00000448810.5:c.399T>C | ||
| ENST00000461013.5:n.8473T>C | ||
| ENST00000475308.1:n.61T>C | ||
| ENST00000479605.5:n.154T>C | ||
| NM_001308122.1:c.1123T>C | NP_001295051.1:p.Trp375Arg | |
| NM_003060.3:c.1051T>C | NP_003051.1:p.Trp351Arg | |
| XM_011543590.1:c.433T>C | XP_011541892.1:p.Trp145Arg | |
| XR_427718.1:n.1411T>C | ||
| XR_948290.1:n.1392T>C | ||
| XR_948291.1:n.1405T>C | ||
| XM_011543590.2:c.433T>C | XP_011541892.1:p.Trp145Arg | |
| XM_017009778.2:c.523T>C | XP_016865267.1:p.Trp175Arg | |
| XR_001742215.1:n.1392T>C | ||
| XR_001742216.1:n.1411T>C | ||
| XR_427718.2:n.1411T>C | ||
| XR_948290.2:n.1392T>C | ||
| XR_948291.2:n.1405T>C | ||
| NM_003060.4:c.1051T>C MANE Select | NP_003051.1:p.Trp351Arg | |
| NM_001308122.2:c.1123T>C | NP_001295051.1:p.Trp375Arg |