Linked Data
ClinVar Variation Id:
426315
dbSNP Id:
rs1085307562
gnomAD v2:
9-139393400-G-A
gnomAD v4:
9-136498948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136498948G>A , CM000671.2:g.136498948G>A | GRCh38 |
| NC_000009.11:g.139393400G>A , CM000671.1:g.139393400G>A | GRCh37 |
| NC_000009.10:g.138513221G>A | NCBI36 |
| NG_007458.1:g.51839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6131C>T MANE Select | ENSP00000498587.1:p.Ala2044Val | |
| ENST00000679595.1:c.*1171C>T | ENSP00000506241.1:n.*1171C>T | |
| ENST00000679969.1:n.2727C>T | ||
| ENST00000680003.1:n.2463C>T | ||
| ENST00000680133.1:c.6017C>T | ENSP00000505319.1:p.Ala2006Val | |
| ENST00000680218.1:c.6011C>T | ENSP00000505339.1:p.Ala2004Val | |
| ENST00000680668.1:c.6017C>T | ENSP00000506336.1:p.Ala2006Val | |
| ENST00000680778.1:c.3728C>T | ENSP00000506033.1:p.Ala1243Val | |
| ENST00000680924.1:c.*3531C>T | ENSP00000506031.1:n.*3531C>T | |
| ENST00000681135.1:c.*3740C>T | ENSP00000506636.1:n.*3740C>T | |
| ENST00000681298.1:n.4236C>T | ||
| ENST00000681454.1:c.*5367C>T | ENSP00000505763.1:n.*5367C>T | |
| ENST00000277541.6:c.6131C>T | ENSP00000277541.6:p.Ala2044Val | |
| NM_017617.3:c.6131C>T | NP_060087.3:p.Ala2044Val | |
| XM_011518717.1:c.5432C>T | XP_011517019.1:p.Ala1811Val | |
| NM_017617.5:c.6131C>T MANE Select | NP_060087.3:p.Ala2044Val | |
| XM_011518717.2:c.5408C>T | XP_011517019.2:p.Ala1803Val |