Linked Data
ClinVar Variation Id:
2041011
ClinVar RCV Id:
RCV002912825
dbSNP Id:
rs782704207
ExAC:
X:148571856 G / A
gnomAD v2:
X-148571856-G-A
gnomAD v3:
X-149490325-G-A
gnomAD v4:
X-149490325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149490325G>A , CM000685.2:g.149490325G>A | GRCh38 |
| NC_000023.10:g.148571856G>A , CM000685.1:g.148571856G>A | GRCh37 |
| NC_000023.9:g.148379761G>A | NCBI36 |
| NG_011900.3:g.20010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.995C>T MANE Select | ENSP00000339801.6:p.Thr332Ile | |
| ENST00000651111.1:c.362C>T | ENSP00000498395.1:p.Thr121Ile | |
| ENST00000340855.10:c.995C>T | ENSP00000339801.6:p.Thr332Ile | |
| ENST00000370441.8:c.995C>T | ENSP00000359470.4:p.Thr332Ile | |
| ENST00000422081.6:c.362C>T | ENSP00000477056.1:p.Thr121Ile | |
| ENST00000441880.1:n.114-3227C>T | ||
| ENST00000464251.5:c.921C>T | ENSP00000428980.1:n.921C>T | |
| ENST00000466323.5:c.*186C>T | ENSP00000418264.1:n.*186C>T | |
| ENST00000490775.5:n.780C>T | ||
| NM_000202.6:c.995C>T | NP_000193.1:p.Thr332Ile | |
| NM_001166550.2:c.725C>T | NP_001160022.1:p.Thr242Ile | |
| NM_006123.4:c.995C>T | NP_006114.1:p.Thr332Ile | |
| NR_104128.1:n.1342C>T | ||
| NM_000202.7:c.995C>T | NP_000193.1:p.Thr332Ile | |
| NM_001166550.3:c.725C>T | NP_001160022.1:p.Thr242Ile | |
| NM_000202.8:c.995C>T MANE Select | NP_000193.1:p.Thr332Ile | |
| NM_001166550.4:c.725C>T | NP_001160022.1:p.Thr242Ile | |
| NM_006123.5:c.995C>T | NP_006114.1:p.Thr332Ile | |
| NR_104128.2:n.1294C>T |