Linked Data
ClinVar Variation Id:
300434
dbSNP Id:
rs371145622
ExAC:
10:73499492 C / T
gnomAD v2:
10-73499492-C-T
gnomAD v3:
10-71739735-C-T
gnomAD v4:
10-71739735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71739735C>T , CM000672.2:g.71739735C>T | GRCh38 |
| NC_000010.10:g.73499492C>T , CM000672.1:g.73499492C>T | GRCh37 |
| NC_000010.9:g.73169498C>T | NCBI36 |
| NG_008835.1:g.347789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.4451C>T MANE Select | ENSP00000224721.9:p.Pro1484Leu | |
| ENST00000224721.10:c.4466C>T | ENSP00000224721.8:p.Pro1489Leu | |
| ENST00000398792.3:n.1140C>T | ||
| ENST00000622827.4:c.4451C>T | ENSP00000483211.1:p.Pro1484Leu | |
| NM_022124.5:c.4451C>T | NP_071407.4:p.Pro1484Leu | |
| XM_006717940.2:c.4646C>T | XP_006718003.1:p.Pro1549Leu | |
| XM_006717942.2:c.4580C>T | XP_006718005.1:p.Pro1527Leu | |
| XM_011540039.1:c.4643C>T | XP_011538341.1:p.Pro1548Leu | |
| XM_011540040.1:c.4640C>T | XP_011538342.1:p.Pro1547Leu | |
| XM_011540041.1:c.4586C>T | XP_011538343.1:p.Pro1529Leu | |
| XM_011540042.1:c.4646C>T | XP_011538344.1:p.Pro1549Leu | |
| XM_011540043.1:c.4646C>T | XP_011538345.1:p.Pro1549Leu | |
| XM_011540044.1:c.4511C>T | XP_011538346.1:p.Pro1504Leu | |
| XM_011540045.1:c.4646C>T | XP_011538347.1:p.Pro1549Leu | |
| XM_011540046.1:c.4106C>T | XP_011538348.1:p.Pro1369Leu | |
| XM_011540047.1:c.3464C>T | XP_011538349.1:p.Pro1155Leu | |
| XM_011540048.1:c.4646C>T | XP_011538350.1:p.Pro1549Leu | |
| XM_011540049.1:c.4646C>T | XP_011538351.1:p.Pro1549Leu | |
| XM_011540050.1:c.4646C>T | XP_011538352.1:p.Pro1549Leu | |
| XM_011540051.1:c.4646C>T | XP_011538353.1:p.Pro1549Leu | |
| XM_011540052.1:c.974C>T | XP_011538354.1:p.Pro325Leu | |
| XM_011540053.1:c.4646C>T | XP_011538355.1:p.Pro1549Leu | |
| XR_945796.1:n.4889C>T | ||
| NM_022124.6:c.4451C>T MANE Select | NP_071407.4:p.Pro1484Leu |