Linked Data
ClinVar Variation Id:
618271
dbSNP Id:
rs145040928
ExAC:
12:48534652 C / A
gnomAD v2:
12-48534652-C-A
gnomAD v3:
12-48140869-C-A
gnomAD v4:
12-48140869-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48140869C>A , CM000674.2:g.48140869C>A | GRCh38 |
| NC_000012.11:g.48534652C>A , CM000674.1:g.48534652C>A | GRCh37 |
| NC_000012.10:g.46820919C>A | NCBI36 |
| NG_016199.1:g.39997C>A | |
| NG_016199.2:g.40617C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550257.7:c.1561C>A | ENSP00000447997.3:p.Gln521Lys | |
| ENST00000340802.12:c.1552C>A | ENSP00000345771.6:p.Gln518Lys | |
| ENST00000359794.11:c.1339C>A MANE Select | ENSP00000352842.5:p.Gln447Lys | |
| ENST00000549941.7:c.1246C>A | ENSP00000446829.3:p.Gln416Lys | |
| ENST00000550345.6:c.1339C>A | ENSP00000450369.2:p.Gln447Lys | |
| ENST00000550924.6:c.1339C>A | ENSP00000446945.2:p.Gln447Lys | |
| ENST00000551339.6:c.1339C>A | ENSP00000448253.2:p.Gln447Lys | |
| ENST00000642730.1:c.1648C>A | ENSP00000496597.1:p.Gln550Lys | |
| ENST00000312352.11:c.1339C>A | ENSP00000309438.7:p.Gln447Lys | |
| ENST00000340802.10:c.1552C>A | ENSP00000345771.6:p.Gln518Lys | |
| ENST00000359794.9:c.1339C>A | ENSP00000352842.5:p.Gln447Lys | |
| ENST00000546465.1:c.184C>A | ENSP00000446519.1:p.Gln62Lys | |
| ENST00000546964.5:n.1663C>A | ||
| ENST00000547148.5:n.767C>A | ||
| ENST00000547581.5:c.*1607C>A | ENSP00000447992.1:n.*1607C>A | |
| ENST00000547587.5:c.1339C>A | ENSP00000449426.1:p.Gln447Lys | |
| ENST00000551804.5:c.1246C>A | ENSP00000448177.1:p.Gln416Lys | |
| ENST00000552752.5:c.488C>A | ||
| NM_000289.5:c.1339C>A | NP_000280.1:p.Gln447Lys | |
| NM_001166686.1:c.1552C>A | NP_001160158.1:p.Gln518Lys | |
| NM_001166687.1:c.1339C>A | NP_001160159.1:p.Gln447Lys | |
| NM_001166688.1:c.1339C>A | NP_001160160.1:p.Gln447Lys | |
| XM_005268974.1:c.1648C>A | XP_005269031.1:p.Gln550Lys | |
| XM_005268975.1:c.1648C>A | XP_005269032.1:p.Gln550Lys | |
| XM_005268976.2:c.1648C>A | XP_005269033.1:p.Gln550Lys | |
| XM_005268977.1:c.1552C>A | XP_005269034.1:p.Gln518Lys | |
| XM_005268978.2:c.1552C>A | XP_005269035.1:p.Gln518Lys | |
| XM_005268979.1:c.1552C>A | XP_005269036.1:p.Gln518Lys | |
| XM_011538487.1:c.1555C>A | XP_011536789.1:p.Gln519Lys | |
| XM_011538488.1:c.1339C>A | XP_011536790.1:p.Gln447Lys | |
| NM_000289.6:c.1339C>A MANE Select | NP_000280.1:p.Gln447Lys | |
| NM_001166686.2:c.1552C>A | NP_001160158.1:p.Gln518Lys | |
| NM_001354735.1:c.1648C>A | NP_001341664.1:p.Gln550Lys | |
| NM_001354736.1:c.1648C>A | NP_001341665.1:p.Gln550Lys | |
| NM_001354737.1:c.1552C>A | NP_001341666.1:p.Gln518Lys | |
| NM_001354738.1:c.1552C>A | NP_001341667.1:p.Gln518Lys | |
| NM_001354739.1:c.1552C>A | NP_001341668.1:p.Gln518Lys | |
| NM_001354740.1:c.1483C>A | NP_001341669.1:p.Gln495Lys | |
| NM_001354741.1:c.1363C>A | NP_001341670.1:p.Gln455Lys | |
| NM_001354742.1:c.1339C>A | NP_001341671.1:p.Gln447Lys | |
| NM_001354743.1:c.1339C>A | NP_001341672.1:p.Gln447Lys | |
| NM_001354744.1:c.1339C>A | NP_001341673.1:p.Gln447Lys | |
| NM_001354745.1:c.1252C>A | NP_001341674.1:p.Gln418Lys | |
| NM_001354746.1:c.1213C>A | NP_001341675.1:p.Gln405Lys | |
| NM_001354747.1:c.1189C>A | NP_001341676.1:p.Gln397Lys | |
| NM_001354748.1:c.1189C>A | NP_001341677.1:p.Gln397Lys | |
| NM_001363619.1:c.1246C>A | NP_001350548.1:p.Gln416Lys | |
| NR_148954.1:n.1776C>A | ||
| NR_148955.1:n.2412C>A | ||
| NR_148956.1:n.1702C>A | ||
| NR_148957.1:n.1931C>A | ||
| NR_148958.1:n.1679C>A | ||
| NR_148959.1:n.1605C>A | ||
| XM_005268976.3:c.1648C>A | XP_005269033.1:p.Gln550Lys | |
| XM_017019469.1:c.1459C>A | XP_016874958.1:p.Gln487Lys | |
| XM_024449020.1:c.1561C>A | XP_024304788.1:p.Gln521Lys | |
| XM_024449021.1:c.1438C>A | XP_024304789.1:p.Gln480Lys | |
| XM_024449022.1:c.1339C>A | XP_024304790.1:p.Gln447Lys | |
| NM_001166687.2:c.1339C>A | NP_001160159.1:p.Gln447Lys | |
| NM_001166688.2:c.1339C>A | NP_001160160.1:p.Gln447Lys | |
| NM_001354741.2:c.1363C>A | NP_001341670.1:p.Gln455Lys | |
| NM_001354742.2:c.1339C>A | NP_001341671.1:p.Gln447Lys | |
| NM_001354743.2:c.1339C>A | NP_001341672.1:p.Gln447Lys | |
| NM_001354744.2:c.1339C>A | NP_001341673.1:p.Gln447Lys | |
| NM_001354745.2:c.1252C>A | NP_001341674.1:p.Gln418Lys | |
| NM_001354746.2:c.1213C>A | NP_001341675.1:p.Gln405Lys | |
| NM_001354747.2:c.1189C>A | NP_001341676.1:p.Gln397Lys | |
| NM_001354748.2:c.1189C>A | NP_001341677.1:p.Gln397Lys | |
| NM_001363619.2:c.1246C>A | NP_001350548.1:p.Gln416Lys | |
| NR_148954.2:n.1642C>A | ||
| NR_148956.2:n.1568C>A | ||
| NR_148957.2:n.1797C>A | ||
| NR_148958.2:n.1545C>A | ||
| NR_148959.2:n.1471C>A |