Linked Data
dbSNP Id:
rs761590784
ExAC:
7:120428862 T / G
gnomAD v2:
7-120428862-T-G
gnomAD v3:
7-120788808-T-G
gnomAD v4:
7-120788808-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788808T>G , CM000669.2:g.120788808T>G | GRCh38 |
| NC_000007.13:g.120428862T>G , CM000669.1:g.120428862T>G | GRCh37 |
| NC_000007.12:g.120216098T>G | NCBI36 |
| NG_023203.1:g.74316A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.702A>C MANE Select | ENSP00000222747.3:p.Gln234His | |
| ENST00000222747.7:c.702A>C | ENSP00000222747.3:p.Gln234His | |
| ENST00000415871.5:c.702A>C | ENSP00000397699.1:p.Gln234His | |
| ENST00000450414.5:c.681A>C | ENSP00000397411.1:n.681A>C | |
| NM_012338.3:c.702A>C | NP_036470.1:p.Gln234His | |
| XM_005250239.1:c.702A>C | XP_005250296.1:p.Gln234His | |
| XM_011515993.1:c.702A>C | XP_011514295.1:p.Gln234His | |
| XM_011515994.1:c.702A>C | XP_011514296.1:p.Gln234His | |
| XM_005250239.3:c.702A>C | XP_005250296.1:p.Gln234His | |
| XM_017011913.1:c.627A>C | XP_016867402.1:p.Gln209His | |
| NM_012338.4:c.702A>C MANE Select | NP_036470.1:p.Gln234His |