Linked Data
dbSNP Id:
rs764705007
ExAC:
12:46246250 T / A
gnomAD v2:
12-46246250-T-A
gnomAD v3:
12-45852467-T-A
gnomAD v4:
12-45852467-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852467T>A , CM000674.2:g.45852467T>A | GRCh38 |
| NC_000012.11:g.46246250T>A , CM000674.1:g.46246250T>A | GRCh37 |
| NC_000012.10:g.44532517T>A | NCBI36 |
| NG_052800.1:g.127803T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4344T>A | ENSP00000415650.3:p.Leu1448= | |
| ENST00000457135.2:c.553T>A | ||
| ENST00000334344.11:c.4344T>A MANE Select | ENSP00000335044.6:p.Leu1448= | |
| ENST00000422737.6:c.4265T>A | ||
| ENST00000334344.10:c.4344T>A | ENSP00000335044.6:p.Leu1448= | |
| ENST00000422737.5:c.3897T>A | ENSP00000415650.1:p.Leu1299= | |
| ENST00000444670.5:c.3174T>A | ENSP00000397307.1:p.Leu1058= | |
| ENST00000457135.1:c.168T>A | ENSP00000388357.1:p.Leu56= | |
| ENST00000479608.5:n.3635T>A | ||
| NM_152641.2:c.4344T>A | NP_689854.2:p.Leu1448= | |
| XM_006719272.2:c.4344T>A | XP_006719335.1:p.Leu1448= | |
| XM_011538025.1:c.2712T>A | XP_011536327.1:p.Leu904= | |
| XR_944505.1:n.4492T>A | ||
| NM_001347839.1:c.4344T>A | NP_001334768.1:p.Leu1448= | |
| NM_152641.3:c.4344T>A | NP_689854.2:p.Leu1448= | |
| XM_006719272.4:c.4344T>A | XP_006719335.1:p.Leu1448= | |
| XR_944505.3:n.4475T>A | ||
| NM_152641.4:c.4344T>A MANE Select | NP_689854.2:p.Leu1448= | |
| NM_001347839.2:c.4344T>A | NP_001334768.1:p.Leu1448= |