Linked Data
dbSNP Id:
rs777623039
ExAC:
16:77369739 C / G
gnomAD v2:
16-77369739-C-G
gnomAD v4:
16-77335842-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77335842C>G , CM000678.2:g.77335842C>G | GRCh38 |
| NC_000016.9:g.77369739C>G , CM000678.1:g.77369739C>G | GRCh37 |
| NC_000016.8:g.75927240C>G | NCBI36 |
| NG_031879.1:g.104273G>C | |
| NG_031879.2:g.104273G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.1773G>C MANE Select | ENSP00000282849.5:p.Gln591His | |
| ENST00000282849.9:c.1773G>C | ENSP00000282849.5:p.Gln591His | |
| NM_199355.2:c.1773G>C | NP_955387.1:p.Gln591His | |
| XM_011522923.1:c.1257G>C | XP_011521225.1:p.Gln419His | |
| XM_011522924.1:c.1257G>C | XP_011521226.1:p.Gln419His | |
| NM_001326358.1:c.1257G>C | NP_001313287.1:p.Gln419His | |
| NM_199355.3:c.1773G>C | NP_955387.1:p.Gln591His | |
| XM_011522924.2:c.1257G>C | XP_011521226.1:p.Gln419His | |
| XM_017022988.2:c.537G>C | XP_016878477.1:p.Gln179His | |
| XM_017022989.1:c.537G>C | XP_016878478.1:p.Gln179His | |
| NM_199355.4:c.1773G>C MANE Select | NP_955387.1:p.Gln591His | |
| NM_001326358.2:c.1257G>C | NP_001313287.1:p.Gln419His |