Linked Data
dbSNP Id:
rs201824740
ExAC:
11:18357338 G / C
gnomAD v2:
11-18357338-G-C
gnomAD v3:
11-18335791-G-C
gnomAD v4:
11-18335791-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18335791G>C , CM000673.2:g.18335791G>C | GRCh38 |
| NC_000011.9:g.18357338G>C , CM000673.1:g.18357338G>C | GRCh37 |
| NC_000011.8:g.18313914G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265963.9:c.192G>C MANE Select | ENSP00000265963.4:p.Gln64His | |
| ENST00000265963.8:c.192G>C | ENSP00000265963.4:p.Gln64His | |
| ENST00000418116.6:n.391G>C | ||
| ENST00000453096.6:c.192G>C | ENSP00000393638.2:p.Gln64His | |
| ENST00000525831.5:c.192G>C | ENSP00000431481.1:p.Gln64His | |
| ENST00000531757.5:n.462G>C | ||
| ENST00000534641.5:c.-1-2318G>C | ENSP00000435375.1:n.-1-2318G>C | |
| ENST00000543932.5:n.605G>C | ||
| NM_001142307.1:c.192G>C | NP_001135779.1:p.Gln64His | |
| NM_005316.3:c.192G>C | NP_005307.1:p.Gln64His | |
| XM_006718208.2:c.192G>C | XP_006718271.1:p.Gln64His | |
| XM_006718208.3:c.192G>C | XP_006718271.1:p.Gln64His | |
| XM_024448457.1:c.192G>C | XP_024304225.1:p.Gln64His | |
| XM_024448458.1:c.192G>C | XP_024304226.1:p.Gln64His | |
| NM_005316.4:c.192G>C MANE Select | NP_005307.1:p.Gln64His | |
| NM_001142307.2:c.192G>C | NP_001135779.1:p.Gln64His |