Linked Data
ClinVar Variation Id:
2734783
ClinVar RCV Id:
RCV003508832
dbSNP Id:
rs386134211
PubMed:
PMID:10545605
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387049G>T , CM000667.2:g.132387049G>T | GRCh38 |
| NC_000005.9:g.131722741G>T , CM000667.1:g.131722741G>T | GRCh37 |
| NC_000005.8:g.131750640G>T | NCBI36 |
| NG_008982.1:g.22341G>T | |
| NG_008982.2:g.22346G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.690G>T | ENSP00000388838.2:p.Trp230Cys | |
| ENST00000435065.7:c.921G>T | ENSP00000402760.2:p.Trp307Cys | |
| ENST00000448810.6:c.849G>T | ENSP00000401860.2:p.Trp283Cys | |
| ENST00000686757.1:c.*13G>T | ENSP00000510721.1:n.*13G>T | |
| ENST00000687740.1:n.3534G>T | ||
| ENST00000688151.1:n.2159G>T | ||
| ENST00000689271.1:c.696G>T | ENSP00000510797.1:p.Trp232Cys | |
| ENST00000690900.1:c.*13G>T | ENSP00000510703.1:n.*13G>T | |
| ENST00000692212.1:n.793G>T | ||
| ENST00000692355.1:c.205-1872G>T | ||
| ENST00000692413.1:c.844-13G>T | ENSP00000509374.1:n.844-13G>T | |
| ENST00000692825.1:c.917G>T | ENSP00000509447.1:n.917G>T | |
| ENST00000693308.1:c.897G>T | ENSP00000509770.1:p.Trp299Cys | |
| ENST00000693763.1:n.2009G>T | ||
| ENST00000245407.8:c.849G>T MANE Select | ENSP00000245407.3:p.Trp283Cys | |
| ENST00000245407.7:c.849G>T | ENSP00000245407.3:p.Trp283Cys | |
| ENST00000415928.5:c.618G>T | ENSP00000388838.1:p.Trp206Cys | |
| ENST00000435065.6:c.921G>T | ENSP00000402760.2:p.Trp307Cys | |
| ENST00000437841.6:c.*164G>T | ENSP00000400553.1:n.*164G>T | |
| ENST00000448810.5:c.197G>T | ||
| ENST00000461013.5:n.8271G>T | ||
| NM_001308122.1:c.921G>T | NP_001295051.1:p.Trp307Cys | |
| NM_003060.3:c.849G>T | NP_003051.1:p.Trp283Cys | |
| XM_011543590.1:c.231G>T | XP_011541892.1:p.Trp77Cys | |
| XR_427718.1:n.1209G>T | ||
| XR_948290.1:n.1190G>T | ||
| XR_948291.1:n.1203G>T | ||
| XM_011543590.2:c.231G>T | XP_011541892.1:p.Trp77Cys | |
| XM_017009778.2:c.321G>T | XP_016865267.1:p.Trp107Cys | |
| XR_001742215.1:n.1190G>T | ||
| XR_001742216.1:n.1209G>T | ||
| XR_427718.2:n.1209G>T | ||
| XR_948290.2:n.1190G>T | ||
| XR_948291.2:n.1203G>T | ||
| NM_003060.4:c.849G>T MANE Select | NP_003051.1:p.Trp283Cys | |
| NM_001308122.2:c.921G>T | NP_001295051.1:p.Trp307Cys |