Linked Data
ClinVar Variation Id:
255756
dbSNP Id:
rs41291971
ExAC:
12:48538908 G / A
gnomAD v2:
12-48538908-G-A
gnomAD v3:
12-48145125-G-A
gnomAD v4:
12-48145125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48145125G>A , CM000674.2:g.48145125G>A | GRCh38 |
| NC_000012.11:g.48538908G>A , CM000674.1:g.48538908G>A | GRCh37 |
| NC_000012.10:g.46825175G>A | NCBI36 |
| NG_016199.1:g.44253G>A | |
| NG_016199.2:g.44873G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000550257.7:c.2309G>A | ENSP00000447997.3:p.Arg770His | |
| ENST00000340802.12:c.2300G>A | ENSP00000345771.6:p.Arg767His | |
| ENST00000359794.11:c.2087G>A MANE Select | ENSP00000352842.5:p.Arg696His | |
| ENST00000549941.7:c.1829G>A | ENSP00000446829.3:p.Arg610His | |
| ENST00000550345.6:c.2087G>A | ENSP00000450369.2:p.Arg696His | |
| ENST00000550924.6:c.2087G>A | ENSP00000446945.2:p.Arg696His | |
| ENST00000551339.6:c.2087G>A | ENSP00000448253.2:p.Arg696His | |
| ENST00000642730.1:c.2396G>A | ENSP00000496597.1:p.Arg799His | |
| ENST00000312352.11:c.2087G>A | ENSP00000309438.7:p.Arg696His | |
| ENST00000340802.10:c.2300G>A | ENSP00000345771.6:p.Arg767His | |
| ENST00000359794.9:c.2087G>A | ENSP00000352842.5:p.Arg696His | |
| ENST00000546964.5:n.2411G>A | ||
| ENST00000547581.5:c.*2355G>A | ENSP00000447992.1:n.*2355G>A | |
| ENST00000547587.5:c.2087G>A | ENSP00000449426.1:p.Arg696His | |
| ENST00000551804.5:c.1994G>A | ENSP00000448177.1:p.Arg665His | |
| NM_000289.5:c.2087G>A | NP_000280.1:p.Arg696His | |
| NM_001166686.1:c.2300G>A | NP_001160158.1:p.Arg767His | |
| NM_001166687.1:c.2087G>A | NP_001160159.1:p.Arg696His | |
| NM_001166688.1:c.2087G>A | NP_001160160.1:p.Arg696His | |
| XM_005268974.1:c.2396G>A | XP_005269031.1:p.Arg799His | |
| XM_005268975.1:c.2396G>A | XP_005269032.1:p.Arg799His | |
| XM_005268976.2:c.2396G>A | XP_005269033.1:p.Arg799His | |
| XM_005268977.1:c.2300G>A | XP_005269034.1:p.Arg767His | |
| XM_005268978.2:c.2300G>A | XP_005269035.1:p.Arg767His | |
| XM_005268979.1:c.2300G>A | XP_005269036.1:p.Arg767His | |
| XM_011538487.1:c.2303G>A | XP_011536789.1:p.Arg768His | |
| XM_011538488.1:c.2087G>A | XP_011536790.1:p.Arg696His | |
| NM_000289.6:c.2087G>A MANE Select | NP_000280.1:p.Arg696His | |
| NM_001166686.2:c.2300G>A | NP_001160158.1:p.Arg767His | |
| NM_001354735.1:c.2396G>A | NP_001341664.1:p.Arg799His | |
| NM_001354736.1:c.2396G>A | NP_001341665.1:p.Arg799His | |
| NM_001354737.1:c.2300G>A | NP_001341666.1:p.Arg767His | |
| NM_001354738.1:c.2300G>A | NP_001341667.1:p.Arg767His | |
| NM_001354739.1:c.2300G>A | NP_001341668.1:p.Arg767His | |
| NM_001354740.1:c.2231G>A | NP_001341669.1:p.Arg744His | |
| NM_001354741.1:c.2111G>A | NP_001341670.1:p.Arg704His | |
| NM_001354742.1:c.2087G>A | NP_001341671.1:p.Arg696His | |
| NM_001354743.1:c.2087G>A | NP_001341672.1:p.Arg696His | |
| NM_001354744.1:c.2087G>A | NP_001341673.1:p.Arg696His | |
| NM_001354745.1:c.2000G>A | NP_001341674.1:p.Arg667His | |
| NM_001354746.1:c.1961G>A | NP_001341675.1:p.Arg654His | |
| NM_001354747.1:c.1937G>A | NP_001341676.1:p.Arg646His | |
| NM_001354748.1:c.1937G>A | NP_001341677.1:p.Arg646His | |
| NM_001363619.1:c.1994G>A | NP_001350548.1:p.Arg665His | |
| NR_148954.1:n.2524G>A | ||
| NR_148955.1:n.3160G>A | ||
| NR_148956.1:n.2450G>A | ||
| NR_148957.1:n.2679G>A | ||
| NR_148958.1:n.2427G>A | ||
| NR_148959.1:n.2353G>A | ||
| XM_005268976.3:c.2396G>A | XP_005269033.1:p.Arg799His | |
| XM_017019469.1:c.2207G>A | XP_016874958.1:p.Arg736His | |
| XM_024449020.1:c.2309G>A | XP_024304788.1:p.Arg770His | |
| XM_024449021.1:c.2186G>A | XP_024304789.1:p.Arg729His | |
| XM_024449022.1:c.2087G>A | XP_024304790.1:p.Arg696His | |
| NM_001166687.2:c.2087G>A | NP_001160159.1:p.Arg696His | |
| NM_001166688.2:c.2087G>A | NP_001160160.1:p.Arg696His | |
| NM_001354741.2:c.2111G>A | NP_001341670.1:p.Arg704His | |
| NM_001354742.2:c.2087G>A | NP_001341671.1:p.Arg696His | |
| NM_001354743.2:c.2087G>A | NP_001341672.1:p.Arg696His | |
| NM_001354744.2:c.2087G>A | NP_001341673.1:p.Arg696His | |
| NM_001354745.2:c.2000G>A | NP_001341674.1:p.Arg667His | |
| NM_001354746.2:c.1961G>A | NP_001341675.1:p.Arg654His | |
| NM_001354747.2:c.1937G>A | NP_001341676.1:p.Arg646His | |
| NM_001354748.2:c.1937G>A | NP_001341677.1:p.Arg646His | |
| NM_001363619.2:c.1994G>A | NP_001350548.1:p.Arg665His | |
| NR_148954.2:n.2390G>A | ||
| NR_148956.2:n.2316G>A | ||
| NR_148957.2:n.2545G>A | ||
| NR_148958.2:n.2293G>A | ||
| NR_148959.2:n.2219G>A |