Linked Data
dbSNP Id:
rs782127705
ExAC:
X:49957289 G / A
gnomAD v2:
X-49957289-G-A
gnomAD v3:
X-50192638-G-A
gnomAD v4:
X-50192638-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192638G>A , CM000685.2:g.50192638G>A | GRCh38 |
| NC_000023.10:g.49957289G>A , CM000685.1:g.49957289G>A | GRCh37 |
| NC_000023.9:g.49844029G>A | NCBI36 |
| NG_012552.1:g.13376C>T | |
| NG_012552.2:g.13376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2075C>T MANE Select | ENSP00000351327.2:p.Ala692Val | |
| ENST00000358526.6:c.2075C>T | ENSP00000351327.2:p.Ala692Val | |
| ENST00000376064.7:c.2048C>T | ENSP00000365232.3:p.Ala683Val | |
| ENST00000481402.5:n.2187C>T | ||
| NM_003886.2:c.2075C>T | NP_003877.2:p.Ala692Val | |
| NM_139289.1:c.2048C>T | NP_647450.1:p.Ala683Val | |
| NM_003886.3:c.2075C>T MANE Select | NP_003877.2:p.Ala692Val | |
| NM_139289.2:c.2048C>T | NP_647450.1:p.Ala683Val |