Linked Data
dbSNP Id:
rs774355776
ExAC:
10:73500595 G / A
gnomAD v2:
10-73500595-G-A
gnomAD v4:
10-71740838-G-A
COSMIC:
COSM920136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740838G>A , CM000672.2:g.71740838G>A | GRCh38 |
| NC_000010.10:g.73500595G>A , CM000672.1:g.73500595G>A | GRCh37 |
| NC_000010.9:g.73170601G>A | NCBI36 |
| NG_008835.1:g.348892G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4505G>A MANE Select | ENSP00000224721.9:p.Arg1502Gln | |
| ENST00000224721.10:c.4520G>A | ENSP00000224721.8:p.Arg1507Gln | |
| ENST00000398792.3:n.1194G>A | ||
| ENST00000622827.4:c.4505G>A | ENSP00000483211.1:p.Arg1502Gln | |
| NM_022124.5:c.4505G>A | NP_071407.4:p.Arg1502Gln | |
| XM_006717940.2:c.4700G>A | XP_006718003.1:p.Arg1567Gln | |
| XM_006717942.2:c.4634G>A | XP_006718005.1:p.Arg1545Gln | |
| XM_011540039.1:c.4697G>A | XP_011538341.1:p.Arg1566Gln | |
| XM_011540040.1:c.4694G>A | XP_011538342.1:p.Arg1565Gln | |
| XM_011540041.1:c.4640G>A | XP_011538343.1:p.Arg1547Gln | |
| XM_011540042.1:c.4700G>A | XP_011538344.1:p.Arg1567Gln | |
| XM_011540043.1:c.4700G>A | XP_011538345.1:p.Arg1567Gln | |
| XM_011540044.1:c.4565G>A | XP_011538346.1:p.Arg1522Gln | |
| XM_011540045.1:c.4700G>A | XP_011538347.1:p.Arg1567Gln | |
| XM_011540046.1:c.4160G>A | XP_011538348.1:p.Arg1387Gln | |
| XM_011540047.1:c.3518G>A | XP_011538349.1:p.Arg1173Gln | |
| XM_011540048.1:c.4700G>A | XP_011538350.1:p.Arg1567Gln | |
| XM_011540049.1:c.4700G>A | XP_011538351.1:p.Arg1567Gln | |
| XM_011540050.1:c.4700G>A | XP_011538352.1:p.Arg1567Gln | |
| XM_011540051.1:c.4700G>A | XP_011538353.1:p.Arg1567Gln | |
| XM_011540052.1:c.1028G>A | XP_011538354.1:p.Arg343Gln | |
| XM_011540053.1:c.4700G>A | XP_011538355.1:p.Arg1567Gln | |
| XR_945796.1:n.4943G>A | ||
| NM_022124.6:c.4505G>A MANE Select | NP_071407.4:p.Arg1502Gln |