Linked Data
ClinVar Variation Id:
211595
dbSNP Id:
rs150689121
ExAC:
X:17742473 C / T
gnomAD v2:
X-17742473-C-T
gnomAD v3:
X-17724353-C-T
gnomAD v4:
X-17724353-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17724353C>T , CM000685.2:g.17724353C>T | GRCh38 |
| NC_000023.10:g.17742473C>T , CM000685.1:g.17742473C>T | GRCh37 |
| NC_000023.9:g.17652394C>T | NCBI36 |
| NG_011553.2:g.353934C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1558C>T | ||
| ENST00000690213.1:n.3043C>T | ||
| ENST00000676302.1:c.1163C>T MANE Select | ENSP00000502262.1:p.Ser388Leu | |
| ENST00000380060.7:c.1100C>T | ENSP00000369400.3:p.Ser367Leu | |
| ENST00000398097.7:c.632C>T | ENSP00000381170.3:p.Ser211Leu | |
| ENST00000485305.1:n.392C>T | ||
| ENST00000615422.1:c.623C>T | ENSP00000480113.1:p.Ser208Leu | |
| ENST00000617601.4:c.551C>T | ENSP00000478433.1:p.Ser184Leu | |
| NM_001136024.3:c.632C>T | NP_001129496.1:p.Ser211Leu | |
| NM_001291867.1:c.1163C>T | NP_001278796.1:p.Ser388Leu | |
| NM_001291868.1:c.569C>T | NP_001278797.1:p.Ser190Leu | |
| NM_198270.3:c.1100C>T | NP_938011.1:p.Ser367Leu | |
| XM_011545528.1:c.215C>T | XP_011543830.1:p.Ser72Leu | |
| XM_011545528.2:c.215C>T | XP_011543830.1:p.Ser72Leu | |
| NM_001136024.4:c.632C>T | NP_001129496.1:p.Ser211Leu | |
| NM_001291867.2:c.1163C>T MANE Select | NP_001278796.1:p.Ser388Leu | |
| NM_001291868.2:c.569C>T | NP_001278797.1:p.Ser190Leu | |
| NM_198270.4:c.1100C>T | NP_938011.1:p.Ser367Leu |