Linked Data
ClinVar Variation Id:
853882
dbSNP Id:
rs749978603
ExAC:
10:73500580 T / C
gnomAD v2:
10-73500580-T-C
gnomAD v4:
10-71740823-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740823T>C , CM000672.2:g.71740823T>C | GRCh38 |
| NC_000010.10:g.73500580T>C , CM000672.1:g.73500580T>C | GRCh37 |
| NC_000010.9:g.73170586T>C | NCBI36 |
| NG_008835.1:g.348877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4490T>C MANE Select | ENSP00000224721.9:p.Val1497Ala | |
| ENST00000224721.10:c.4505T>C | ENSP00000224721.8:p.Val1502Ala | |
| ENST00000398792.3:n.1179T>C | ||
| ENST00000622827.4:c.4490T>C | ENSP00000483211.1:p.Val1497Ala | |
| NM_022124.5:c.4490T>C | NP_071407.4:p.Val1497Ala | |
| XM_006717940.2:c.4685T>C | XP_006718003.1:p.Val1562Ala | |
| XM_006717942.2:c.4619T>C | XP_006718005.1:p.Val1540Ala | |
| XM_011540039.1:c.4682T>C | XP_011538341.1:p.Val1561Ala | |
| XM_011540040.1:c.4679T>C | XP_011538342.1:p.Val1560Ala | |
| XM_011540041.1:c.4625T>C | XP_011538343.1:p.Val1542Ala | |
| XM_011540042.1:c.4685T>C | XP_011538344.1:p.Val1562Ala | |
| XM_011540043.1:c.4685T>C | XP_011538345.1:p.Val1562Ala | |
| XM_011540044.1:c.4550T>C | XP_011538346.1:p.Val1517Ala | |
| XM_011540045.1:c.4685T>C | XP_011538347.1:p.Val1562Ala | |
| XM_011540046.1:c.4145T>C | XP_011538348.1:p.Val1382Ala | |
| XM_011540047.1:c.3503T>C | XP_011538349.1:p.Val1168Ala | |
| XM_011540048.1:c.4685T>C | XP_011538350.1:p.Val1562Ala | |
| XM_011540049.1:c.4685T>C | XP_011538351.1:p.Val1562Ala | |
| XM_011540050.1:c.4685T>C | XP_011538352.1:p.Val1562Ala | |
| XM_011540051.1:c.4685T>C | XP_011538353.1:p.Val1562Ala | |
| XM_011540052.1:c.1013T>C | XP_011538354.1:p.Val338Ala | |
| XM_011540053.1:c.4685T>C | XP_011538355.1:p.Val1562Ala | |
| XR_945796.1:n.4928T>C | ||
| NM_022124.6:c.4490T>C MANE Select | NP_071407.4:p.Val1497Ala |