Linked Data
ClinVar Variation Id:
368465
dbSNP Id:
rs139475570
ExAC:
X:49047959 C / T
gnomAD v2:
X-49047959-C-T
gnomAD v3:
X-49191502-C-T
gnomAD v4:
X-49191502-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49191502C>T , CM000685.2:g.49191502C>T | GRCh38 |
| NC_000023.10:g.49047959C>T , CM000685.1:g.49047959C>T | GRCh37 |
| NC_000023.9:g.48934903C>T | NCBI36 |
| NG_012532.1:g.13703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689634.1:n.2464G>A | ||
| ENST00000692723.1:n.903G>A | ||
| ENST00000263233.9:c.877G>A MANE Select | ENSP00000263233.4:p.Gly293Ser | |
| ENST00000263233.8:c.877G>A | ENSP00000263233.4:p.Gly293Ser | |
| ENST00000376303.6:c.*629G>A | ENSP00000365480.2:n.*629G>A | |
| ENST00000472598.5:c.546G>A | ||
| ENST00000479808.5:c.877G>A | ENSP00000418169.1:p.Gly293Ser | |
| NM_003179.2:c.877G>A | NP_003170.1:p.Gly293Ser | |
| XM_011543950.1:c.556G>A | XP_011542252.1:p.Gly186Ser | |
| XM_011543951.1:c.523G>A | XP_011542253.1:p.Gly175Ser | |
| NM_003179.3:c.877G>A MANE Select | NP_003170.1:p.Gly293Ser |