Linked Data
dbSNP Id:
rs149043274
gnomAD v2:
8-41791234-C-A
gnomAD v3:
8-41933716-C-A
gnomAD v4:
8-41933716-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933716C>A , CM000670.2:g.41933716C>A | GRCh38 |
| NC_000008.10:g.41791234C>A , CM000670.1:g.41791234C>A | GRCh37 |
| NC_000008.9:g.41910391C>A | NCBI36 |
| NG_042093.1:g.123311G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.4504G>T MANE Select | ENSP00000265713.2:p.Val1502Leu | |
| ENST00000396930.4:c.4504G>T | ENSP00000380136.3:p.Val1502Leu | |
| ENST00000406337.6:c.4510G>T | ENSP00000385888.2:p.Val1504Leu | |
| ENST00000648335.1:c.4504G>T | ENSP00000497086.1:p.Val1502Leu | |
| ENST00000649817.1:c.3185G>T | ||
| ENST00000265713.6:c.4504G>T | ENSP00000265713.2:p.Val1502Leu | |
| ENST00000396930.3:c.4504G>T | ENSP00000380136.3:p.Val1502Leu | |
| ENST00000406337.5:c.4504G>T | ENSP00000385888.1:p.Val1502Leu | |
| NM_001099412.1:c.4504G>T | NP_001092882.1:p.Val1502Leu | |
| NM_001099413.1:c.4504G>T | NP_001092883.1:p.Val1502Leu | |
| NM_006766.3:c.4504G>T | NP_006757.2:p.Val1502Leu | |
| NM_006766.4:c.4504G>T | NP_006757.2:p.Val1502Leu | |
| XM_011544656.1:c.4636G>T | XP_011542958.1:p.Val1546Leu | |
| XM_011544657.1:c.4636G>T | XP_011542959.1:p.Val1546Leu | |
| XM_011544658.1:c.4636G>T | XP_011542960.1:p.Val1546Leu | |
| XM_011544659.1:c.4615G>T | XP_011542961.1:p.Val1539Leu | |
| XM_011544660.1:c.4522G>T | XP_011542962.1:p.Val1508Leu | |
| XM_011544656.2:c.4636G>T | XP_011542958.1:p.Val1546Leu | |
| XM_011544657.3:c.4636G>T | XP_011542959.1:p.Val1546Leu | |
| XM_011544658.3:c.4636G>T | XP_011542960.1:p.Val1546Leu | |
| XM_011544659.2:c.4615G>T | XP_011542961.1:p.Val1539Leu | |
| XM_017013863.1:c.4504G>T | XP_016869352.1:p.Val1502Leu | |
| XM_017013864.2:c.4504G>T | XP_016869353.1:p.Val1502Leu | |
| XM_024447285.1:c.3076G>T | XP_024303053.1:p.Val1026Leu | |
| NM_006766.5:c.4504G>T MANE Select | NP_006757.2:p.Val1502Leu |