Linked Data
ClinVar Variation Id:
424226
dbSNP Id:
rs781788935
ExAC:
X:153218288 G / A
gnomAD v2:
X-153218288-G-A
gnomAD v3:
X-153952837-G-A
gnomAD v4:
X-153952837-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153952837G>A , CM000685.2:g.153952837G>A | GRCh38 |
| NC_000023.10:g.153218288G>A , CM000685.1:g.153218288G>A | GRCh37 |
| NC_000023.9:g.152871482G>A | NCBI36 |
| NG_012513.1:g.23532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.4619C>T MANE Select | ENSP00000309555.7:p.Thr1540Ile | |
| ENST00000310441.11:c.4619C>T | ENSP00000309555.7:p.Thr1540Ile | |
| ENST00000369984.4:c.4751C>T | ENSP00000359001.4:p.Thr1584Ile | |
| ENST00000444191.5:c.342C>T | ||
| NM_005334.2:c.4619C>T | NP_005325.2:p.Thr1540Ile | |
| XM_006724815.1:c.4751C>T | XP_006724878.1:p.Thr1584Ile | |
| XM_006724816.1:c.4751C>T | XP_006724879.1:p.Thr1584Ile | |
| XM_011531144.1:c.4751C>T | XP_011529446.1:p.Thr1584Ile | |
| XM_011531145.1:c.4751C>T | XP_011529447.1:p.Thr1584Ile | |
| XM_011531146.1:c.4748C>T | XP_011529448.1:p.Thr1583Ile | |
| XM_011531147.1:c.4619C>T | XP_011529449.1:p.Thr1540Ile | |
| XM_011531148.1:c.4619C>T | XP_011529450.1:p.Thr1540Ile | |
| XM_011531149.1:c.4553C>T | XP_011529451.1:p.Thr1518Ile | |
| XM_011531150.1:c.3842C>T | XP_011529452.1:p.Thr1281Ile | |
| XM_006724815.3:c.4751C>T | XP_006724878.1:p.Thr1584Ile | |
| XM_006724816.3:c.4751C>T | XP_006724879.1:p.Thr1584Ile | |
| XM_011531147.3:c.4619C>T | XP_011529449.1:p.Thr1540Ile | |
| XM_011531148.3:c.4619C>T | XP_011529450.1:p.Thr1540Ile | |
| XM_017029471.2:c.4553C>T | XP_016884960.1:p.Thr1518Ile | |
| XM_017029472.1:c.3842C>T | XP_016884961.1:p.Thr1281Ile | |
| NM_005334.3:c.4619C>T MANE Select | NP_005325.2:p.Thr1540Ile |