Linked Data
dbSNP Id:
rs782590564
ExAC:
X:148564455 A / G
gnomAD v2:
X-148564455-A-G
gnomAD v4:
X-149482924-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482924A>G , CM000685.2:g.149482924A>G | GRCh38 |
| NC_000023.10:g.148564455A>G , CM000685.1:g.148564455A>G | GRCh37 |
| NC_000023.9:g.148372360A>G | NCBI36 |
| NG_011900.3:g.27411T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1475T>C MANE Select | ENSP00000339801.6:p.Ile492Thr | |
| ENST00000651111.1:c.842T>C | ENSP00000498395.1:p.Ile281Thr | |
| ENST00000340855.10:c.1475T>C | ENSP00000339801.6:p.Ile492Thr | |
| ENST00000422081.6:c.842T>C | ENSP00000477056.1:p.Ile281Thr | |
| NM_000202.6:c.1475T>C | NP_000193.1:p.Ile492Thr | |
| NM_001166550.2:c.1205T>C | NP_001160022.1:p.Ile402Thr | |
| NM_000202.7:c.1475T>C | NP_000193.1:p.Ile492Thr | |
| NM_001166550.3:c.1205T>C | NP_001160022.1:p.Ile402Thr | |
| NM_000202.8:c.1475T>C MANE Select | NP_000193.1:p.Ile492Thr | |
| NM_001166550.4:c.1205T>C | NP_001160022.1:p.Ile402Thr |