Linked Data
dbSNP Id:
rs746778929
ExAC:
10:73500589 C / T
gnomAD v2:
10-73500589-C-T
gnomAD v4:
10-71740832-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740832C>T , CM000672.2:g.71740832C>T | GRCh38 |
| NC_000010.10:g.73500589C>T , CM000672.1:g.73500589C>T | GRCh37 |
| NC_000010.9:g.73170595C>T | NCBI36 |
| NG_008835.1:g.348886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4499C>T MANE Select | ENSP00000224721.9:p.Ser1500Phe | |
| ENST00000224721.10:c.4514C>T | ENSP00000224721.8:p.Ser1505Phe | |
| ENST00000398792.3:n.1188C>T | ||
| ENST00000622827.4:c.4499C>T | ENSP00000483211.1:p.Ser1500Phe | |
| NM_022124.5:c.4499C>T | NP_071407.4:p.Ser1500Phe | |
| XM_006717940.2:c.4694C>T | XP_006718003.1:p.Ser1565Phe | |
| XM_006717942.2:c.4628C>T | XP_006718005.1:p.Ser1543Phe | |
| XM_011540039.1:c.4691C>T | XP_011538341.1:p.Ser1564Phe | |
| XM_011540040.1:c.4688C>T | XP_011538342.1:p.Ser1563Phe | |
| XM_011540041.1:c.4634C>T | XP_011538343.1:p.Ser1545Phe | |
| XM_011540042.1:c.4694C>T | XP_011538344.1:p.Ser1565Phe | |
| XM_011540043.1:c.4694C>T | XP_011538345.1:p.Ser1565Phe | |
| XM_011540044.1:c.4559C>T | XP_011538346.1:p.Ser1520Phe | |
| XM_011540045.1:c.4694C>T | XP_011538347.1:p.Ser1565Phe | |
| XM_011540046.1:c.4154C>T | XP_011538348.1:p.Ser1385Phe | |
| XM_011540047.1:c.3512C>T | XP_011538349.1:p.Ser1171Phe | |
| XM_011540048.1:c.4694C>T | XP_011538350.1:p.Ser1565Phe | |
| XM_011540049.1:c.4694C>T | XP_011538351.1:p.Ser1565Phe | |
| XM_011540050.1:c.4694C>T | XP_011538352.1:p.Ser1565Phe | |
| XM_011540051.1:c.4694C>T | XP_011538353.1:p.Ser1565Phe | |
| XM_011540052.1:c.1022C>T | XP_011538354.1:p.Ser341Phe | |
| XM_011540053.1:c.4694C>T | XP_011538355.1:p.Ser1565Phe | |
| XR_945796.1:n.4937C>T | ||
| NM_022124.6:c.4499C>T MANE Select | NP_071407.4:p.Ser1500Phe |