Linked Data
dbSNP Id:
rs781886679
ExAC:
X:49957165 C / T
gnomAD v2:
X-49957165-C-T
gnomAD v3:
X-50192514-C-T
gnomAD v4:
X-50192514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192514C>T , CM000685.2:g.50192514C>T | GRCh38 |
| NC_000023.10:g.49957165C>T , CM000685.1:g.49957165C>T | GRCh37 |
| NC_000023.9:g.49843905C>T | NCBI36 |
| NG_012552.1:g.13500G>A | |
| NG_012552.2:g.13500G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2199G>A MANE Select | ENSP00000351327.2:p.Lys733= | |
| ENST00000358526.6:c.2199G>A | ENSP00000351327.2:p.Lys733= | |
| ENST00000376064.7:c.2172G>A | ENSP00000365232.3:p.Lys724= | |
| ENST00000481402.5:n.2311G>A | ||
| NM_003886.2:c.2199G>A | NP_003877.2:p.Lys733= | |
| NM_139289.1:c.2172G>A | NP_647450.1:p.Lys724= | |
| NM_003886.3:c.2199G>A MANE Select | NP_003877.2:p.Lys733= | |
| NM_139289.2:c.2172G>A | NP_647450.1:p.Lys724= |