Linked Data
dbSNP Id:
rs137852379
ExAC:
X:154250707 C / T
gnomAD v2:
X-154250707-C-T
gnomAD v4:
X-155022432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155022432C>T , CM000685.2:g.155022432C>T | GRCh38 |
| NC_000023.10:g.154250707C>T , CM000685.1:g.154250707C>T | GRCh37 |
| NC_000023.9:g.153903901C>T | NCBI36 |
| NG_011403.1:g.5292G>A | |
| NG_011403.2:g.5292G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.121G>A MANE Select | ENSP00000353393.4:p.Gly41Ser | |
| ENST00000647125.1:c.121G>A | ENSP00000496062.1:p.Asp41Asn | |
| ENST00000360256.8:c.121G>A | ENSP00000353393.4:p.Gly41Ser | |
| ENST00000423959.5:c.38+4348G>A | ENSP00000409446.1:n.38+4348G>A | |
| ENST00000453950.1:c.103G>A | ENSP00000389153.1:p.Gly35Ser | |
| NM_000132.3:c.121G>A | NP_000123.1:p.Gly41Ser | |
| XM_011531126.1:c.38+4348G>A | XP_011529428.1:n.38+4348G>A | |
| NM_000132.4:c.121G>A MANE Select | NP_000123.1:p.Gly41Ser |