Linked Data
ClinVar Variation Id:
2155925
ClinVar RCV Id:
RCV003075199
dbSNP Id:
rs762557333
gnomAD v2:
10-73500611-G-A
gnomAD v4:
10-71740854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740854G>A , CM000672.2:g.71740854G>A | GRCh38 |
| NC_000010.10:g.73500611G>A , CM000672.1:g.73500611G>A | GRCh37 |
| NC_000010.9:g.73170617G>A | NCBI36 |
| NG_008835.1:g.348908G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.4521G>A MANE Select | ENSP00000224721.9:p.Arg1507= | |
| ENST00000224721.10:c.4536G>A | ENSP00000224721.8:p.Arg1512= | |
| ENST00000398792.3:n.1210G>A | ||
| ENST00000622827.4:c.4521G>A | ENSP00000483211.1:p.Arg1507= | |
| NM_022124.5:c.4521G>A | NP_071407.4:p.Arg1507= | |
| XM_006717940.2:c.4716G>A | XP_006718003.1:p.Arg1572= | |
| XM_006717942.2:c.4650G>A | XP_006718005.1:p.Arg1550= | |
| XM_011540039.1:c.4713G>A | XP_011538341.1:p.Arg1571= | |
| XM_011540040.1:c.4710G>A | XP_011538342.1:p.Arg1570= | |
| XM_011540041.1:c.4656G>A | XP_011538343.1:p.Arg1552= | |
| XM_011540042.1:c.4716G>A | XP_011538344.1:p.Arg1572= | |
| XM_011540043.1:c.4716G>A | XP_011538345.1:p.Arg1572= | |
| XM_011540044.1:c.4581G>A | XP_011538346.1:p.Arg1527= | |
| XM_011540045.1:c.4716G>A | XP_011538347.1:p.Arg1572= | |
| XM_011540046.1:c.4176G>A | XP_011538348.1:p.Arg1392= | |
| XM_011540047.1:c.3534G>A | XP_011538349.1:p.Arg1178= | |
| XM_011540048.1:c.4716G>A | XP_011538350.1:p.Arg1572= | |
| XM_011540049.1:c.4716G>A | XP_011538351.1:p.Arg1572= | |
| XM_011540050.1:c.4716G>A | XP_011538352.1:p.Arg1572= | |
| XM_011540051.1:c.4716G>A | XP_011538353.1:p.Arg1572= | |
| XM_011540052.1:c.1044G>A | XP_011538354.1:p.Arg348= | |
| XM_011540053.1:c.4716G>A | XP_011538355.1:p.Arg1572= | |
| XR_945796.1:n.4959G>A | ||
| NM_022124.6:c.4521G>A MANE Select | NP_071407.4:p.Arg1507= |