Linked Data
ClinVar Variation Id:
198289
dbSNP Id:
rs145005596
ExAC:
X:17745600 C / T
gnomAD v2:
X-17745600-C-T
gnomAD v3:
X-17727480-C-T
gnomAD v4:
X-17727480-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17727480C>T , CM000685.2:g.17727480C>T | GRCh38 |
| NC_000023.10:g.17745600C>T , CM000685.1:g.17745600C>T | GRCh37 |
| NC_000023.9:g.17655521C>T | NCBI36 |
| NG_011553.2:g.357061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.3769C>T | ||
| ENST00000690608.1:n.2331C>T | ||
| ENST00000676302.1:c.3374C>T MANE Select | ENSP00000502262.1:p.Ser1125Leu | |
| ENST00000380060.7:c.3311C>T | ENSP00000369400.3:p.Ser1104Leu | |
| ENST00000398097.7:c.2843C>T | ENSP00000381170.3:p.Ser948Leu | |
| ENST00000615422.1:c.2834C>T | ENSP00000480113.1:p.Ser945Leu | |
| ENST00000617601.4:c.2762C>T | ENSP00000478433.1:p.Ser921Leu | |
| NM_001136024.3:c.2843C>T | NP_001129496.1:p.Ser948Leu | |
| NM_001291867.1:c.3374C>T | NP_001278796.1:p.Ser1125Leu | |
| NM_001291868.1:c.2780C>T | NP_001278797.1:p.Ser927Leu | |
| NM_198270.3:c.3311C>T | NP_938011.1:p.Ser1104Leu | |
| XM_011545528.1:c.2426C>T | XP_011543830.1:p.Ser809Leu | |
| XM_011545528.2:c.2426C>T | XP_011543830.1:p.Ser809Leu | |
| NM_001136024.4:c.2843C>T | NP_001129496.1:p.Ser948Leu | |
| NM_001291867.2:c.3374C>T MANE Select | NP_001278796.1:p.Ser1125Leu | |
| NM_001291868.2:c.2780C>T | NP_001278797.1:p.Ser927Leu | |
| NM_198270.4:c.3311C>T | NP_938011.1:p.Ser1104Leu |