ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385400G>T , CM000667.2:g.132385400G>T | GRCh38 |
| NC_000005.9:g.131721092G>T , CM000667.1:g.131721092G>T | GRCh37 |
| NC_000005.8:g.131748991G>T | NCBI36 |
| NG_008982.1:g.20692G>T | |
| NG_008982.2:g.20697G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.665+1086G>T | ENSP00000388838.2:n.665+1086G>T | |
| ENST00000435065.7:c.797G>T | ENSP00000402760.2:p.Gly266Val | |
| ENST00000448810.6:c.725G>T | ENSP00000401860.2:p.Gly242Val | |
| ENST00000686757.1:c.744G>T | ENSP00000510721.1:p.Trp248Cys | |
| ENST00000687740.1:n.1885G>T | ||
| ENST00000688151.1:n.1917G>T | ||
| ENST00000689271.1:c.671+1080G>T | ENSP00000510797.1:n.671+1080G>T | |
| ENST00000690900.1:c.696G>T | ENSP00000510703.1:p.Trp232Cys | |
| ENST00000692212.1:n.551G>T | ||
| ENST00000692355.1:c.204+1099G>T | ||
| ENST00000692413.1:c.744G>T | ENSP00000509374.1:p.Trp248Cys | |
| ENST00000692825.1:c.793G>T | ENSP00000509447.1:n.793G>T | |
| ENST00000693308.1:c.738G>T | ENSP00000509770.1:p.Trp246Cys | |
| ENST00000693763.1:n.1885G>T | ||
| ENST00000245407.8:c.725G>T MANE Select | ENSP00000245407.3:p.Gly242Val | |
| ENST00000245407.7:c.725G>T | ENSP00000245407.3:p.Gly242Val | |
| ENST00000415928.5:c.494G>T | ENSP00000388838.1:p.Gly165Val | |
| ENST00000435065.6:c.797G>T | ENSP00000402760.2:p.Gly266Val | |
| ENST00000437841.6:c.*40G>T | ENSP00000400553.1:n.*40G>T | |
| ENST00000448810.5:c.73G>T | ||
| ENST00000461013.5:n.8147G>T | ||
| NM_001308122.1:c.797G>T | NP_001295051.1:p.Gly266Val | |
| NM_003060.3:c.725G>T | NP_003051.1:p.Gly242Val | |
| XM_011543590.1:c.107G>T | XP_011541892.1:p.Gly36Val | |
| XR_427718.1:n.1085G>T | ||
| XR_948290.1:n.1066G>T | ||
| XR_948291.1:n.1079G>T | ||
| XM_011543590.2:c.107G>T | XP_011541892.1:p.Gly36Val | |
| XM_017009778.2:c.197G>T | XP_016865267.1:p.Gly66Val | |
| XR_001742215.1:n.1066G>T | ||
| XR_001742216.1:n.1085G>T | ||
| XR_427718.2:n.1085G>T | ||
| XR_948290.2:n.1066G>T | ||
| XR_948291.2:n.1079G>T | ||
| NM_003060.4:c.725G>T MANE Select | NP_003051.1:p.Gly242Val | |
| NM_001308122.2:c.797G>T | NP_001295051.1:p.Gly266Val |