Linked Data
dbSNP Id:
rs781980675
ExAC:
8:144810791 C / A
gnomAD v2:
8-144810791-C-A
gnomAD v4:
8-143728621-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728621C>A , CM000670.2:g.143728621C>A | GRCh38 |
| NC_000008.10:g.144810791C>A , CM000670.1:g.144810791C>A | GRCh37 |
| NC_000008.9:g.144882779C>A | NCBI36 |
| NG_016652.1:g.10124G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.840G>T MANE Select | ENSP00000373565.3:p.Gln280His | |
| ENST00000650760.1:c.1443G>T | ENSP00000499217.1:p.Gln481His | |
| ENST00000388913.3:c.840G>T | ENSP00000373565.3:p.Gln280His | |
| ENST00000395103.2:c.20G>T | ||
| NM_198488.3:c.840G>T | NP_940890.3:p.Gln280His | |
| XM_005250887.2:c.897G>T | XP_005250944.1:p.Gln299His | |
| XM_005250888.2:c.858G>T | XP_005250945.1:p.Gln286His | |
| XM_005250889.2:c.840G>T | XP_005250946.1:p.Gln280His | |
| XM_011516980.1:c.1161G>T | XP_011515282.1:p.Gln387His | |
| XM_011516981.1:c.1008G>T | XP_011515283.1:p.Gln336His | |
| XM_005250887.3:c.897G>T | XP_005250944.1:p.Gln299His | |
| XM_005250888.3:c.858G>T | XP_005250945.1:p.Gln286His | |
| XM_005250889.3:c.840G>T | XP_005250946.1:p.Gln280His | |
| XM_011516980.2:c.1443G>T | XP_011515282.2:p.Gln481His | |
| XM_011516981.2:c.1008G>T | XP_011515283.1:p.Gln336His | |
| XM_024447131.1:c.840G>T | XP_024302899.1:p.Gln280His | |
| NM_198488.4:c.840G>T | NP_940890.3:p.Gln280His | |
| NM_198488.5:c.840G>T MANE Select | NP_940890.4:p.Gln280His |