MutSpliceDB:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46355587A>G , CM000684.2:g.46355587A>G | GRCh38 |
| NC_000022.10:g.46751484A>G , CM000684.1:g.46751484A>G | GRCh37 |
| NC_000022.9:g.45130148A>G | NCBI36 |
| NG_012173.1:g.25187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642923.1:c.912A>G | ENSP00000494255.1:p.Leu304= | |
| ENST00000643137.1:c.912A>G | ENSP00000495331.1:p.Leu304= | |
| ENST00000644006.1:c.*461A>G | ENSP00000493778.1:n.*461A>G | |
| ENST00000645190.1:c.1017A>G MANE Select | ENSP00000496496.1:p.Leu339= | |
| ENST00000647301.1:c.*461A>G | ENSP00000496641.1:n.*461A>G | |
| ENST00000290846.8:c.1017A>G | ENSP00000290846.4:p.Leu339= | |
| ENST00000381019.3:c.1017A>G | ENSP00000370407.3:p.Leu339= | |
| ENST00000381021.7:c.*610A>G | ENSP00000370409.3:n.*610A>G | |
| ENST00000441818.5:c.*551A>G | ENSP00000393014.1:n.*551A>G | |
| ENST00000453630.5:c.*555A>G | ENSP00000398488.1:n.*555A>G | |
| ENST00000456595.5:c.*551A>G | ENSP00000413880.1:n.*551A>G | |
| ENST00000457572.5:c.*461A>G | ENSP00000407700.1:n.*461A>G | |
| ENST00000470831.1:n.878A>G | ||
| ENST00000485559.1:n.2071A>G | ||
| ENST00000491612.1:n.1183A>G | ||
| NM_001282782.1:c.675A>G | NP_001269711.1:p.Leu225= | |
| NM_001282783.1:c.597A>G | NP_001269712.1:p.Leu199= | |
| NM_001282784.1:c.597A>G | NP_001269713.1:p.Leu199= | |
| NM_001282785.1:c.1017A>G | NP_001269714.1:p.Leu339= | |
| NM_018006.4:c.1017A>G | NP_060476.2:p.Leu339= | |
| NR_104240.1:n.1326A>G | ||
| NR_104241.1:n.1219A>G | ||
| XM_005261678.1:c.621A>G | XP_005261735.1:p.Leu207= | |
| XM_005261681.1:c.621A>G | XP_005261738.1:p.Leu207= | |
| XM_011530271.1:c.912A>G | XP_011528573.1:p.Leu304= | |
| XM_011530272.1:c.916A>G | XP_011528574.1:p.Ser306Gly | |
| XM_011530273.1:c.916A>G | XP_011528575.1:p.Ser306Gly | |
| XM_011530274.1:c.675A>G | XP_011528576.1:p.Leu225= | |
| XM_011530275.1:c.621A>G | XP_011528577.1:p.Leu207= | |
| XM_011530271.2:c.912A>G | XP_011528573.1:p.Leu304= | |
| XM_011530272.2:c.916A>G | XP_011528574.1:p.Ser306Gly | |
| XM_011530273.2:c.916A>G | XP_011528575.1:p.Ser306Gly | |
| XM_011530274.2:c.675A>G | XP_011528576.1:p.Leu225= | |
| XM_024452260.1:c.811A>G | XP_024308028.1:p.Ser271Gly | |
| XR_001755261.2:n.3881A>G | ||
| NM_018006.5:c.1017A>G MANE Select | NP_060476.2:p.Leu339= | |
| NM_001282782.2:c.675A>G | NP_001269711.1:p.Leu225= | |
| NM_001282783.2:c.597A>G | NP_001269712.1:p.Leu199= | |
| NM_001282784.2:c.597A>G | NP_001269713.1:p.Leu199= | |
| NM_001282785.2:c.1017A>G | NP_001269714.1:p.Leu339= | |
| NR_104240.2:n.1013A>G | ||
| NR_104241.2:n.906A>G |