Linked Data
dbSNP Id:
rs367599490
ExAC:
15:73614951 C / T
gnomAD v2:
15-73614951-C-T
gnomAD v3:
15-73322610-C-T
gnomAD v4:
15-73322610-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322610C>T , CM000677.2:g.73322610C>T | GRCh38 |
| NC_000015.9:g.73614951C>T , CM000677.1:g.73614951C>T | GRCh37 |
| NC_000015.8:g.71402004C>T | NCBI36 |
| NG_009063.1:g.51655G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3483G>A MANE Select | ENSP00000261917.3:p.Leu1161= | |
| ENST00000261917.3:c.3483G>A | ENSP00000261917.3:p.Leu1161= | |
| NM_005477.2:c.3483G>A | NP_005468.1:p.Leu1161= | |
| XM_011521148.1:c.2265G>A | XP_011519450.1:p.Leu755= | |
| XM_011521148.2:c.2265G>A | XP_011519450.1:p.Leu755= | |
| NM_005477.3:c.3483G>A MANE Select | NP_005468.1:p.Leu1161= |