Linked Data
ClinVar Variation Id:
10600
dbSNP Id:
rs1800455
ExAC:
X:138642995 T / C
gnomAD v2:
X-138642995-T-C
gnomAD v3:
X-139560836-T-C
gnomAD v4:
X-139560836-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139560836T>C , CM000685.2:g.139560836T>C | GRCh38 |
| NC_000023.10:g.138642995T>C , CM000685.1:g.138642995T>C | GRCh37 |
| NC_000023.9:g.138470661T>C | NCBI36 |
| NG_007994.1:g.35101T>C , LRG_556:g.35101T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218099.7:c.819T>C MANE Select | ENSP00000218099.2:p.Val273= | |
| ENST00000643157.1:n.1486T>C | ||
| ENST00000218099.6:c.819T>C | ENSP00000218099.2:p.Val273= | |
| ENST00000394090.2:c.705T>C | ENSP00000377650.2:p.Val235= | |
| NM_000133.3:c.819T>C , LRG_556t1:c.819T>C | NP_000124.1:p.Val273= | |
| NM_001313913.1:c.705T>C | NP_001300842.1:p.Val235= | |
| XM_005262397.3:c.690T>C | XP_005262454.1:p.Val230= | |
| XM_005262397.4:c.690T>C | XP_005262454.1:p.Val230= | |
| NM_000133.4:c.819T>C MANE Select | NP_000124.1:p.Val273= | |
| NM_001313913.2:c.705T>C | NP_001300842.1:p.Val235= |