Linked Data
dbSNP Id:
rs373686108
ExAC:
X:80001202 T / A
gnomAD v2:
X-80001202-T-A
gnomAD v4:
X-80745703-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80745703T>A , CM000685.2:g.80745703T>A | GRCh38 |
| NC_000023.10:g.80001202T>A , CM000685.1:g.80001202T>A | GRCh37 |
| NC_000023.9:g.79887858T>A | NCBI36 |
| NG_021349.1:g.69032A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373275.5:c.457A>T MANE Select | ENSP00000362372.4:p.Thr153Ser | |
| ENST00000373275.4:c.457A>T | ENSP00000362372.4:p.Thr153Ser | |
| ENST00000478415.1:n.669A>T | ||
| NM_153252.4:c.457A>T | NP_694984.4:p.Thr153Ser | |
| XM_005262113.2:c.457A>T | XP_005262170.1:p.Thr153Ser | |
| XM_011530903.1:c.-57A>T | XP_011529205.1:n.-57A>T | |
| XM_011530904.1:c.-880A>T | XP_011529206.1:n.-880A>T | |
| XR_430519.2:n.720A>T | ||
| XM_005262113.3:c.457A>T | XP_005262170.1:p.Thr153Ser | |
| XM_017029384.1:c.-880A>T | XP_016884873.1:n.-880A>T | |
| XM_017029385.2:c.457A>T | XP_016884874.1:p.Thr153Ser | |
| XR_430519.3:n.722A>T | ||
| NM_153252.5:c.457A>T MANE Select | NP_694984.5:p.Thr153Ser |