Linked Data
ClinVar Variation Id:
255750
dbSNP Id:
rs56117548
ExAC:
12:48535080 G / T
gnomAD v2:
12-48535080-G-T
gnomAD v3:
12-48141297-G-T
gnomAD v4:
12-48141297-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48141297G>T , CM000674.2:g.48141297G>T | GRCh38 |
| NC_000012.11:g.48535080G>T , CM000674.1:g.48535080G>T | GRCh37 |
| NC_000012.10:g.46821347G>T | NCBI36 |
| NG_016199.1:g.40425G>T | |
| NG_016199.2:g.41045G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550257.7:c.1564-14G>T | ENSP00000447997.3:n.1564-14G>T | |
| ENST00000340802.12:c.1555-14G>T | ENSP00000345771.6:n.1555-14G>T | |
| ENST00000359794.11:c.1342-14G>T MANE Select | ENSP00000352842.5:n.1342-14G>T | |
| ENST00000549941.7:c.1249-14G>T | ENSP00000446829.3:n.1249-14G>T | |
| ENST00000550345.6:c.1342-14G>T | ENSP00000450369.2:n.1342-14G>T | |
| ENST00000550924.6:c.1342-14G>T | ENSP00000446945.2:n.1342-14G>T | |
| ENST00000551339.6:c.1342-14G>T | ENSP00000448253.2:n.1342-14G>T | |
| ENST00000642730.1:c.1651-14G>T | ENSP00000496597.1:n.1651-14G>T | |
| ENST00000312352.11:c.1342-14G>T | ENSP00000309438.7:n.1342-14G>T | |
| ENST00000340802.10:c.1555-14G>T | ENSP00000345771.6:n.1555-14G>T | |
| ENST00000359794.9:c.1342-14G>T | ENSP00000352842.5:n.1342-14G>T | |
| ENST00000546465.1:c.187-14G>T | ENSP00000446519.1:n.187-14G>T | |
| ENST00000546964.5:n.1666-14G>T | ||
| ENST00000547148.5:n.770-14G>T | ||
| ENST00000547581.5:c.*1610-14G>T | ENSP00000447992.1:n.*1610-14G>T | |
| ENST00000547587.5:c.1342-14G>T | ENSP00000449426.1:n.1342-14G>T | |
| ENST00000551804.5:c.1249-14G>T | ENSP00000448177.1:n.1249-14G>T | |
| ENST00000552752.5:c.491-14G>T | ||
| NM_000289.5:c.1342-14G>T | NP_000280.1:n.1342-14G>T | |
| NM_001166686.1:c.1555-14G>T | NP_001160158.1:n.1555-14G>T | |
| NM_001166687.1:c.1342-14G>T | NP_001160159.1:n.1342-14G>T | |
| NM_001166688.1:c.1342-14G>T | NP_001160160.1:n.1342-14G>T | |
| XM_005268974.1:c.1651-14G>T | XP_005269031.1:n.1651-14G>T | |
| XM_005268975.1:c.1651-14G>T | XP_005269032.1:n.1651-14G>T | |
| XM_005268976.2:c.1651-14G>T | XP_005269033.1:n.1651-14G>T | |
| XM_005268977.1:c.1555-14G>T | XP_005269034.1:n.1555-14G>T | |
| XM_005268978.2:c.1555-14G>T | XP_005269035.1:n.1555-14G>T | |
| XM_005268979.1:c.1555-14G>T | XP_005269036.1:n.1555-14G>T | |
| XM_011538487.1:c.1558-14G>T | XP_011536789.1:n.1558-14G>T | |
| XM_011538488.1:c.1342-14G>T | XP_011536790.1:n.1342-14G>T | |
| NM_000289.6:c.1342-14G>T MANE Select | NP_000280.1:n.1342-14G>T | |
| NM_001166686.2:c.1555-14G>T | NP_001160158.1:n.1555-14G>T | |
| NM_001354735.1:c.1651-14G>T | NP_001341664.1:n.1651-14G>T | |
| NM_001354736.1:c.1651-14G>T | NP_001341665.1:n.1651-14G>T | |
| NM_001354737.1:c.1555-14G>T | NP_001341666.1:n.1555-14G>T | |
| NM_001354738.1:c.1555-14G>T | NP_001341667.1:n.1555-14G>T | |
| NM_001354739.1:c.1555-14G>T | NP_001341668.1:n.1555-14G>T | |
| NM_001354740.1:c.1486-14G>T | NP_001341669.1:n.1486-14G>T | |
| NM_001354741.1:c.1366-14G>T | NP_001341670.1:n.1366-14G>T | |
| NM_001354742.1:c.1342-14G>T | NP_001341671.1:n.1342-14G>T | |
| NM_001354743.1:c.1342-14G>T | NP_001341672.1:n.1342-14G>T | |
| NM_001354744.1:c.1342-14G>T | NP_001341673.1:n.1342-14G>T | |
| NM_001354745.1:c.1255-14G>T | NP_001341674.1:n.1255-14G>T | |
| NM_001354746.1:c.1216-14G>T | NP_001341675.1:n.1216-14G>T | |
| NM_001354747.1:c.1192-14G>T | NP_001341676.1:n.1192-14G>T | |
| NM_001354748.1:c.1192-14G>T | NP_001341677.1:n.1192-14G>T | |
| NM_001363619.1:c.1249-14G>T | NP_001350548.1:n.1249-14G>T | |
| NR_148954.1:n.1779-14G>T | ||
| NR_148955.1:n.2415-14G>T | ||
| NR_148956.1:n.1705-14G>T | ||
| NR_148957.1:n.1934-14G>T | ||
| NR_148958.1:n.1682-14G>T | ||
| NR_148959.1:n.1608-14G>T | ||
| XM_005268976.3:c.1651-14G>T | XP_005269033.1:n.1651-14G>T | |
| XM_017019469.1:c.1462-14G>T | XP_016874958.1:n.1462-14G>T | |
| XM_024449020.1:c.1564-14G>T | XP_024304788.1:n.1564-14G>T | |
| XM_024449021.1:c.1441-14G>T | XP_024304789.1:n.1441-14G>T | |
| XM_024449022.1:c.1342-14G>T | XP_024304790.1:n.1342-14G>T | |
| NM_001166687.2:c.1342-14G>T | NP_001160159.1:n.1342-14G>T | |
| NM_001166688.2:c.1342-14G>T | NP_001160160.1:n.1342-14G>T | |
| NM_001354741.2:c.1366-14G>T | NP_001341670.1:n.1366-14G>T | |
| NM_001354742.2:c.1342-14G>T | NP_001341671.1:n.1342-14G>T | |
| NM_001354743.2:c.1342-14G>T | NP_001341672.1:n.1342-14G>T | |
| NM_001354744.2:c.1342-14G>T | NP_001341673.1:n.1342-14G>T | |
| NM_001354745.2:c.1255-14G>T | NP_001341674.1:n.1255-14G>T | |
| NM_001354746.2:c.1216-14G>T | NP_001341675.1:n.1216-14G>T | |
| NM_001354747.2:c.1192-14G>T | NP_001341676.1:n.1192-14G>T | |
| NM_001354748.2:c.1192-14G>T | NP_001341677.1:n.1192-14G>T | |
| NM_001363619.2:c.1249-14G>T | NP_001350548.1:n.1249-14G>T | |
| NR_148954.2:n.1645-14G>T | ||
| NR_148956.2:n.1571-14G>T | ||
| NR_148957.2:n.1800-14G>T | ||
| NR_148958.2:n.1548-14G>T | ||
| NR_148959.2:n.1474-14G>T |