Linked Data
dbSNP Id:
rs763314209
ExAC:
1:94884040 G / T
gnomAD v2:
1-94884040-G-T
gnomAD v4:
1-94418484-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418484G>T , CM000663.2:g.94418484G>T | GRCh38 |
| NC_000001.10:g.94884040G>T , CM000663.1:g.94884040G>T | GRCh37 |
| NC_000001.9:g.94656628G>T | NCBI36 |
| NG_008865.1:g.5108G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.6G>T MANE Select | ENSP00000359233.4:p.Ala2= | |
| ENST00000647998.2:c.6G>T | ENSP00000497921.2:p.Ala2= | |
| ENST00000315713.5:c.6G>T | ENSP00000326880.5:p.Ala2= | |
| ENST00000370214.8:c.6G>T | ENSP00000359233.4:p.Ala2= | |
| NM_001122674.1:c.6G>T | NP_001116146.1:p.Ala2= | |
| NM_002858.3:c.6G>T | NP_002849.1:p.Ala2= | |
| XM_006710802.2:c.6G>T | XP_006710865.2:p.Ala2= | |
| NM_002858.4:c.6G>T MANE Select | NP_002849.1:p.Ala2= | |
| NM_001122674.2:c.6G>T | NP_001116146.1:p.Ala2= |