Linked Data
ClinVar Variation Id:
96645
dbSNP Id:
rs143119491
ExAC:
X:17710501 C / G
gnomAD v2:
X-17710501-C-G
gnomAD v3:
X-17692381-C-G
gnomAD v4:
X-17692381-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17692381C>G , CM000685.2:g.17692381C>G | GRCh38 |
| NC_000023.10:g.17710501C>G , CM000685.1:g.17710501C>G | GRCh37 |
| NC_000023.9:g.17620422C>G | NCBI36 |
| NG_011553.2:g.321962C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.1160C>G | ||
| ENST00000676302.1:c.765C>G MANE Select | ENSP00000502262.1:p.Pro255= | |
| ENST00000380060.7:c.765C>G | ENSP00000369400.3:p.Pro255= | |
| ENST00000398097.7:c.234C>G | ENSP00000381170.3:p.Pro78= | |
| ENST00000615422.1:c.225C>G | ENSP00000480113.1:p.Pro75= | |
| ENST00000617601.4:c.216C>G | ENSP00000478433.1:p.Pro72= | |
| NM_001136024.3:c.234C>G | NP_001129496.1:p.Pro78= | |
| NM_001291867.1:c.765C>G | NP_001278796.1:p.Pro255= | |
| NM_001291868.1:c.234C>G | NP_001278797.1:p.Pro78= | |
| NM_198270.3:c.765C>G | NP_938011.1:p.Pro255= | |
| NM_001136024.4:c.234C>G | NP_001129496.1:p.Pro78= | |
| NM_001291867.2:c.765C>G MANE Select | NP_001278796.1:p.Pro255= | |
| NM_001291868.2:c.234C>G | NP_001278797.1:p.Pro78= | |
| NM_198270.4:c.765C>G | NP_938011.1:p.Pro255= |