Linked Data
dbSNP Id:
rs766102267
ExAC:
10:72517798 G / T
gnomAD v2:
10-72517798-G-T
gnomAD v4:
10-70758042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758042G>T , CM000672.2:g.70758042G>T | GRCh38 |
| NC_000010.10:g.72517798G>T , CM000672.1:g.72517798G>T | GRCh37 |
| NC_000010.9:g.72187804G>T | NCBI36 |
| NG_042147.1:g.90240G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3018G>T MANE Select | ENSP00000362303.1:p.Glu1006Asp | |
| ENST00000373207.1:c.3018G>T | ENSP00000362303.1:p.Glu1006Asp | |
| ENST00000373208.5:c.3027G>T | ENSP00000362304.1:p.Glu1009Asp | |
| NM_080722.3:c.3018G>T | NP_542453.2:p.Glu1006Asp | |
| NM_139155.2:c.3027G>T | NP_631894.2:p.Glu1009Asp | |
| XM_011539300.1:c.2517G>T | XP_011537602.1:p.Glu839Asp | |
| XM_011539301.1:c.2091G>T | XP_011537603.1:p.Glu697Asp | |
| XM_011539302.1:c.2091G>T | XP_011537604.1:p.Glu697Asp | |
| XM_011539309.1:c.1587G>T | XP_011537611.1:p.Glu529Asp | |
| NM_080722.4:c.3018G>T MANE Select | NP_542453.2:p.Glu1006Asp | |
| NM_139155.3:c.3027G>T | NP_631894.2:p.Glu1009Asp | |
| XM_011539300.2:c.2517G>T | XP_011537602.1:p.Glu839Asp | |
| XM_011539301.2:c.2091G>T | XP_011537603.1:p.Glu697Asp | |
| XM_011539302.2:c.2091G>T | XP_011537604.1:p.Glu697Asp |