Linked Data
dbSNP Id:
rs778451995
ExAC:
4:73179408 C / G
gnomAD v2:
4-73179408-C-G
gnomAD v4:
4-72313691-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.72313691C>G , CM000666.2:g.72313691C>G | GRCh38 |
| NC_000004.11:g.73179408C>G , CM000666.1:g.73179408C>G | GRCh37 |
| NC_000004.10:g.73398272C>G | NCBI36 |
| NG_046955.1:g.260109G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286657.10:c.1731G>C MANE Select | ENSP00000286657.4:p.Gln577His | |
| ENST00000286657.8:c.1731G>C | ENSP00000286657.4:p.Gln577His | |
| ENST00000622135.1:c.1731G>C | ENSP00000480055.1:p.Gln577His | |
| NM_014243.2:c.1731G>C | NP_055058.2:p.Gln577His | |
| XM_011532421.1:c.1674G>C | XP_011530723.1:p.Gln558His | |
| XM_011532422.1:c.1647G>C | XP_011530724.1:p.Gln549His | |
| XM_011532423.1:c.1089G>C | XP_011530725.1:p.Gln363His | |
| XM_011532424.1:c.999G>C | XP_011530726.1:p.Gln333His | |
| XM_011532421.2:c.1674G>C | XP_011530723.1:p.Gln558His | |
| XM_011532422.3:c.1647G>C | XP_011530724.1:p.Gln549His | |
| NM_014243.3:c.1731G>C MANE Select | NP_055058.2:p.Gln577His |