Linked Data
dbSNP Id:
rs746048737
ExAC:
15:40308712 C / G
gnomAD v2:
15-40308712-C-G
gnomAD v4:
15-40016511-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40016511C>G , CM000677.2:g.40016511C>G | GRCh38 |
| NC_000015.9:g.40308712C>G , CM000677.1:g.40308712C>G | GRCh37 |
| NC_000015.8:g.38096004C>G | NCBI36 |
| NG_034053.1:g.87388C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.3769C>G MANE Select | ENSP00000263791.5:p.Leu1257Val | |
| ENST00000263791.9:c.3769C>G | ENSP00000263791.5:p.Leu1257Val | |
| ENST00000558557.1:n.923-597C>G | ||
| ENST00000558629.5:n.2686C>G | ||
| ENST00000560855.5:c.3101C>G | ||
| NM_001013703.3:c.3769C>G | NP_001013725.2:p.Leu1257Val | |
| XM_005254392.1:c.3769C>G | XP_005254449.1:p.Leu1257Val | |
| XM_011521599.1:c.3769C>G | XP_011519901.1:p.Leu1257Val | |
| XM_011521600.1:c.3760-597C>G | XP_011519902.1:n.3760-597C>G | |
| XM_005254392.3:c.3769C>G | XP_005254449.1:p.Leu1257Val | |
| XM_011521599.2:c.3769C>G | XP_011519901.1:p.Leu1257Val | |
| XM_011521600.3:c.3760-597C>G | XP_011519902.1:n.3760-597C>G | |
| XM_017022219.2:c.3760-597C>G | XP_016877708.1:n.3760-597C>G | |
| NM_001013703.4:c.3769C>G MANE Select | NP_001013725.2:p.Leu1257Val |