Linked Data
dbSNP Id:
rs104894860
ExAC:
X:148579832 G / T
gnomAD v2:
X-148579832-G-T
gnomAD v3:
X-149498301-G-T
gnomAD v4:
X-149498301-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149498301G>T , CM000685.2:g.149498301G>T | GRCh38 |
| NC_000023.10:g.148579832G>T , CM000685.1:g.148579832G>T | GRCh37 |
| NC_000023.9:g.148387737G>T | NCBI36 |
| NG_011900.3:g.12034C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340855.11:c.514C>A MANE Select | ENSP00000339801.6:p.Arg172= | |
| ENST00000651111.1:c.-120C>A | ENSP00000498395.1:n.-120C>A | |
| ENST00000340855.10:c.514C>A | ENSP00000339801.6:p.Arg172= | |
| ENST00000370441.8:c.514C>A | ENSP00000359470.4:p.Arg172= | |
| ENST00000422081.6:c.-120C>A | ENSP00000477056.1:n.-120C>A | |
| ENST00000441880.1:n.114-11203C>A | ||
| ENST00000464251.5:c.440C>A | ENSP00000428980.1:n.440C>A | |
| ENST00000466323.5:c.514C>A | ENSP00000418264.1:p.Arg172= | |
| ENST00000490775.5:n.299C>A | ||
| ENST00000523759.5:n.628C>A | ||
| NM_000202.6:c.514C>A | NP_000193.1:p.Arg172= | |
| NM_001166550.2:c.244C>A | NP_001160022.1:p.Arg82= | |
| NM_006123.4:c.514C>A | NP_006114.1:p.Arg172= | |
| NR_104128.1:n.731C>A | ||
| NM_000202.7:c.514C>A | NP_000193.1:p.Arg172= | |
| NM_001166550.3:c.244C>A | NP_001160022.1:p.Arg82= | |
| NM_000202.8:c.514C>A MANE Select | NP_000193.1:p.Arg172= | |
| NM_001166550.4:c.244C>A | NP_001160022.1:p.Arg82= | |
| NM_006123.5:c.514C>A | NP_006114.1:p.Arg172= | |
| NR_104128.2:n.683C>A |