ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393683C>G , CM000667.2:g.132393683C>G | GRCh38 |
| NC_000005.9:g.131729375C>G , CM000667.1:g.131729375C>G | GRCh37 |
| NC_000005.8:g.131757274C>G | NCBI36 |
| NG_008982.1:g.28975C>G | |
| NG_008982.2:g.28980C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1292-502C>G | ENSP00000388838.2:n.1292-502C>G | |
| ENST00000435065.7:c.1530C>G | ENSP00000402760.2:p.Tyr510Ter | |
| ENST00000448810.6:c.*310C>G | ENSP00000401860.2:n.*310C>G | |
| ENST00000685543.1:n.1599C>G | ||
| ENST00000686757.1:c.*622C>G | ENSP00000510721.1:n.*622C>G | |
| ENST00000686868.1:n.450C>G | ||
| ENST00000687740.1:n.4143C>G | ||
| ENST00000688151.1:n.2768C>G | ||
| ENST00000689271.1:c.1305C>G | ENSP00000510797.1:p.Tyr435Ter | |
| ENST00000690900.1:c.*622C>G | ENSP00000510703.1:n.*622C>G | |
| ENST00000692212.1:n.4598C>G | ||
| ENST00000692355.1:c.711C>G | ||
| ENST00000692413.1:c.1440C>G | ENSP00000509374.1:p.Tyr480Ter | |
| ENST00000692825.1:c.1526C>G | ENSP00000509447.1:n.1526C>G | |
| ENST00000693308.1:c.1506C>G | ENSP00000509770.1:p.Tyr502Ter | |
| ENST00000693763.1:n.2618C>G | ||
| ENST00000245407.8:c.1458C>G MANE Select | ENSP00000245407.3:p.Tyr486Ter | |
| ENST00000245407.7:c.1458C>G | ENSP00000245407.3:p.Tyr486Ter | |
| ENST00000435065.6:c.1530C>G | ENSP00000402760.2:p.Tyr510Ter | |
| ENST00000447841.5:c.302C>G | ||
| ENST00000448810.5:c.720C>G | ||
| ENST00000461013.5:n.8880C>G | ||
| ENST00000475308.1:n.2136C>G | ||
| ENST00000479605.5:n.561C>G | ||
| NM_001308122.1:c.1530C>G | NP_001295051.1:p.Tyr510Ter | |
| NM_003060.3:c.1458C>G | NP_003051.1:p.Tyr486Ter | |
| XM_011543590.1:c.840C>G | XP_011541892.1:p.Tyr280Ter | |
| XR_948290.1:n.1584C>G | ||
| XM_011543590.2:c.840C>G | XP_011541892.1:p.Tyr280Ter | |
| XM_017009778.2:c.930C>G | XP_016865267.1:p.Tyr310Ter | |
| XR_001742215.1:n.1713C>G | ||
| XR_001742216.1:n.1732C>G | ||
| XR_427718.2:n.1818C>G | ||
| XR_948290.2:n.1584C>G | ||
| XR_948291.2:n.1812C>G | ||
| NM_003060.4:c.1458C>G MANE Select | NP_003051.1:p.Tyr486Ter | |
| NM_001308122.2:c.1530C>G | NP_001295051.1:p.Tyr510Ter |