Linked Data
dbSNP Id:
rs769498242
ExAC:
X:136649295 G / A
gnomAD v2:
X-136649295-G-A
gnomAD v3:
X-137567136-G-A
gnomAD v4:
X-137567136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567136G>A , CM000685.2:g.137567136G>A | GRCh38 |
| NC_000023.10:g.136649295G>A , CM000685.1:g.136649295G>A | GRCh37 |
| NC_000023.9:g.136476961G>A | NCBI36 |
| NG_008115.1:g.5950G>A | |
| NG_008115.2:g.6010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.445G>A MANE Select | ENSP00000287538.5:p.Ala149Thr | |
| ENST00000287538.9:c.445G>A | ENSP00000287538.5:p.Ala149Thr | |
| ENST00000370606.3:c.445G>A | ENSP00000359638.3:p.Ala149Thr | |
| NM_003413.3:c.445G>A | NP_003404.1:p.Ala149Thr | |
| NM_001330661.1:c.445G>A | NP_001317590.1:p.Ala149Thr | |
| NM_003413.4:c.445G>A MANE Select | NP_003404.1:p.Ala149Thr |