Linked Data
ClinVar Variation Id:
45973
dbSNP Id:
rs114745089
ExAC:
10:73539133 T / C
gnomAD v2:
10-73539133-T-C
gnomAD v3:
10-71779376-T-C
gnomAD v4:
10-71779376-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71779376T>C , CM000672.2:g.71779376T>C | GRCh38 |
| NC_000010.10:g.73539133T>C , CM000672.1:g.73539133T>C | GRCh37 |
| NC_000010.9:g.73209139T>C | NCBI36 |
| NG_008835.1:g.387430T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5297T>C MANE Select | ENSP00000224721.9:p.Phe1766Ser | |
| ENST00000224721.10:c.5312T>C | ENSP00000224721.8:p.Phe1771Ser | |
| ENST00000622827.4:c.5297T>C | ENSP00000483211.1:p.Phe1766Ser | |
| NM_022124.5:c.5297T>C | NP_071407.4:p.Phe1766Ser | |
| XM_006717940.2:c.5492T>C | XP_006718003.1:p.Phe1831Ser | |
| XM_006717942.2:c.5426T>C | XP_006718005.1:p.Phe1809Ser | |
| XM_011540039.1:c.5489T>C | XP_011538341.1:p.Phe1830Ser | |
| XM_011540040.1:c.5486T>C | XP_011538342.1:p.Phe1829Ser | |
| XM_011540041.1:c.5432T>C | XP_011538343.1:p.Phe1811Ser | |
| XM_011540042.1:c.5492T>C | XP_011538344.1:p.Phe1831Ser | |
| XM_011540043.1:c.5492T>C | XP_011538345.1:p.Phe1831Ser | |
| XM_011540044.1:c.5357T>C | XP_011538346.1:p.Phe1786Ser | |
| XM_011540045.1:c.5492T>C | XP_011538347.1:p.Phe1831Ser | |
| XM_011540046.1:c.4952T>C | XP_011538348.1:p.Phe1651Ser | |
| XM_011540047.1:c.4310T>C | XP_011538349.1:p.Phe1437Ser | |
| XM_011540048.1:c.5492T>C | XP_011538350.1:p.Phe1831Ser | |
| XM_011540049.1:c.5492T>C | XP_011538351.1:p.Phe1831Ser | |
| XM_011540050.1:c.5492T>C | XP_011538352.1:p.Phe1831Ser | |
| XM_011540051.1:c.5492T>C | XP_011538353.1:p.Phe1831Ser | |
| XM_011540052.1:c.1820T>C | XP_011538354.1:p.Phe607Ser | |
| XM_011540053.1:c.5492T>C | XP_011538355.1:p.Phe1831Ser | |
| XR_945796.1:n.5735T>C | ||
| NM_022124.6:c.5297T>C MANE Select | NP_071407.4:p.Phe1766Ser |