Linked Data
dbSNP Id:
rs758070912
ExAC:
10:73500585 G / T
gnomAD v2:
10-73500585-G-T
gnomAD v3:
10-71740828-G-T
gnomAD v4:
10-71740828-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740828G>T , CM000672.2:g.71740828G>T | GRCh38 |
| NC_000010.10:g.73500585G>T , CM000672.1:g.73500585G>T | GRCh37 |
| NC_000010.9:g.73170591G>T | NCBI36 |
| NG_008835.1:g.348882G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4495G>T MANE Select | ENSP00000224721.9:p.Ala1499Ser | |
| ENST00000224721.10:c.4510G>T | ENSP00000224721.8:p.Ala1504Ser | |
| ENST00000398792.3:n.1184G>T | ||
| ENST00000622827.4:c.4495G>T | ENSP00000483211.1:p.Ala1499Ser | |
| NM_022124.5:c.4495G>T | NP_071407.4:p.Ala1499Ser | |
| XM_006717940.2:c.4690G>T | XP_006718003.1:p.Ala1564Ser | |
| XM_006717942.2:c.4624G>T | XP_006718005.1:p.Ala1542Ser | |
| XM_011540039.1:c.4687G>T | XP_011538341.1:p.Ala1563Ser | |
| XM_011540040.1:c.4684G>T | XP_011538342.1:p.Ala1562Ser | |
| XM_011540041.1:c.4630G>T | XP_011538343.1:p.Ala1544Ser | |
| XM_011540042.1:c.4690G>T | XP_011538344.1:p.Ala1564Ser | |
| XM_011540043.1:c.4690G>T | XP_011538345.1:p.Ala1564Ser | |
| XM_011540044.1:c.4555G>T | XP_011538346.1:p.Ala1519Ser | |
| XM_011540045.1:c.4690G>T | XP_011538347.1:p.Ala1564Ser | |
| XM_011540046.1:c.4150G>T | XP_011538348.1:p.Ala1384Ser | |
| XM_011540047.1:c.3508G>T | XP_011538349.1:p.Ala1170Ser | |
| XM_011540048.1:c.4690G>T | XP_011538350.1:p.Ala1564Ser | |
| XM_011540049.1:c.4690G>T | XP_011538351.1:p.Ala1564Ser | |
| XM_011540050.1:c.4690G>T | XP_011538352.1:p.Ala1564Ser | |
| XM_011540051.1:c.4690G>T | XP_011538353.1:p.Ala1564Ser | |
| XM_011540052.1:c.1018G>T | XP_011538354.1:p.Ala340Ser | |
| XM_011540053.1:c.4690G>T | XP_011538355.1:p.Ala1564Ser | |
| XR_945796.1:n.4933G>T | ||
| NM_022124.6:c.4495G>T MANE Select | NP_071407.4:p.Ala1499Ser |