Linked Data
ClinVar Variation Id:
531901
dbSNP Id:
rs373464879
ExAC:
X:17745135 C / T
gnomAD v2:
X-17745135-C-T
gnomAD v3:
X-17727015-C-T
gnomAD v4:
X-17727015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17727015C>T , CM000685.2:g.17727015C>T | GRCh38 |
| NC_000023.10:g.17745135C>T , CM000685.1:g.17745135C>T | GRCh37 |
| NC_000023.9:g.17655056C>T | NCBI36 |
| NG_011553.2:g.356596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.3304C>T | ||
| ENST00000690608.1:n.1866C>T | ||
| ENST00000676302.1:c.2909C>T MANE Select | ENSP00000502262.1:p.Thr970Met | |
| ENST00000380060.7:c.2846C>T | ENSP00000369400.3:p.Thr949Met | |
| ENST00000398097.7:c.2378C>T | ENSP00000381170.3:p.Thr793Met | |
| ENST00000615422.1:c.2369C>T | ENSP00000480113.1:p.Thr790Met | |
| ENST00000617601.4:c.2297C>T | ENSP00000478433.1:p.Thr766Met | |
| NM_001136024.3:c.2378C>T | NP_001129496.1:p.Thr793Met | |
| NM_001291867.1:c.2909C>T | NP_001278796.1:p.Thr970Met | |
| NM_001291868.1:c.2315C>T | NP_001278797.1:p.Thr772Met | |
| NM_198270.3:c.2846C>T | NP_938011.1:p.Thr949Met | |
| XM_011545528.1:c.1961C>T | XP_011543830.1:p.Thr654Met | |
| XM_011545528.2:c.1961C>T | XP_011543830.1:p.Thr654Met | |
| NM_001136024.4:c.2378C>T | NP_001129496.1:p.Thr793Met | |
| NM_001291867.2:c.2909C>T MANE Select | NP_001278796.1:p.Thr970Met | |
| NM_001291868.2:c.2315C>T | NP_001278797.1:p.Thr772Met | |
| NM_198270.4:c.2846C>T | NP_938011.1:p.Thr949Met |