Linked Data
ClinVar Variation Id:
2151452
dbSNP Id:
rs751367016
ExAC:
9:139390716 G / A
gnomAD v2:
9-139390716-G-A
gnomAD v3:
9-136496264-G-A
gnomAD v4:
9-136496264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136496264G>A , CM000671.2:g.136496264G>A | GRCh38 |
| NC_000009.11:g.139390716G>A , CM000671.1:g.139390716G>A | GRCh37 |
| NC_000009.10:g.138510537G>A | NCBI36 |
| NG_007458.1:g.54523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.7475C>T MANE Select | ENSP00000498587.1:p.Ser2492Leu | |
| ENST00000679595.1:c.*2515C>T | ENSP00000506241.1:n.*2515C>T | |
| ENST00000679969.1:n.4071C>T | ||
| ENST00000680003.1:n.3807C>T | ||
| ENST00000680133.1:c.7361C>T | ENSP00000505319.1:p.Ser2454Leu | |
| ENST00000680218.1:c.7355C>T | ENSP00000505339.1:p.Ser2452Leu | |
| ENST00000680668.1:c.7361C>T | ENSP00000506336.1:p.Ser2454Leu | |
| ENST00000680778.1:c.5072C>T | ENSP00000506033.1:p.Ser1691Leu | |
| ENST00000680924.1:c.*4875C>T | ENSP00000506031.1:n.*4875C>T | |
| ENST00000681135.1:c.*5084C>T | ENSP00000506636.1:n.*5084C>T | |
| ENST00000681298.1:n.5580C>T | ||
| ENST00000681454.1:c.*6711C>T | ENSP00000505763.1:n.*6711C>T | |
| ENST00000277541.6:c.7475C>T | ENSP00000277541.6:p.Ser2492Leu | |
| NM_017617.3:c.7475C>T | NP_060087.3:p.Ser2492Leu | |
| XM_011518717.1:c.6776C>T | XP_011517019.1:p.Ser2259Leu | |
| NM_017617.5:c.7475C>T MANE Select | NP_060087.3:p.Ser2492Leu | |
| XM_011518717.2:c.6752C>T | XP_011517019.2:p.Ser2251Leu |