Linked Data
dbSNP Id:
rs782022550
ExAC:
X:148564486 A / T
gnomAD v2:
X-148564486-A-T
gnomAD v4:
X-149482955-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482955A>T , CM000685.2:g.149482955A>T | GRCh38 |
| NC_000023.10:g.148564486A>T , CM000685.1:g.148564486A>T | GRCh37 |
| NC_000023.9:g.148372391A>T | NCBI36 |
| NG_011900.3:g.27380T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1444T>A MANE Select | ENSP00000339801.6:p.Leu482Ile | |
| ENST00000651111.1:c.811T>A | ENSP00000498395.1:p.Leu271Ile | |
| ENST00000340855.10:c.1444T>A | ENSP00000339801.6:p.Leu482Ile | |
| ENST00000422081.6:c.811T>A | ENSP00000477056.1:p.Leu271Ile | |
| NM_000202.6:c.1444T>A | NP_000193.1:p.Leu482Ile | |
| NM_001166550.2:c.1174T>A | NP_001160022.1:p.Leu392Ile | |
| NM_000202.7:c.1444T>A | NP_000193.1:p.Leu482Ile | |
| NM_001166550.3:c.1174T>A | NP_001160022.1:p.Leu392Ile | |
| NM_000202.8:c.1444T>A MANE Select | NP_000193.1:p.Leu482Ile | |
| NM_001166550.4:c.1174T>A | NP_001160022.1:p.Leu392Ile |