Linked Data
ClinVar Variation Id:
2807406
ClinVar RCV Id:
RCV003749402
dbSNP Id:
rs945483115
gnomAD v2:
9-139391624-G-A
gnomAD v4:
9-136497172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497172G>A , CM000671.2:g.136497172G>A | GRCh38 |
| NC_000009.11:g.139391624G>A , CM000671.1:g.139391624G>A | GRCh37 |
| NC_000009.10:g.138511445G>A | NCBI36 |
| NG_007458.1:g.53615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6567C>T MANE Select | ENSP00000498587.1:p.Cys2189= | |
| ENST00000679595.1:c.*1607C>T | ENSP00000506241.1:n.*1607C>T | |
| ENST00000679969.1:n.3163C>T | ||
| ENST00000680003.1:n.2899C>T | ||
| ENST00000680133.1:c.6453C>T | ENSP00000505319.1:p.Cys2151= | |
| ENST00000680218.1:c.6447C>T | ENSP00000505339.1:p.Cys2149= | |
| ENST00000680668.1:c.6453C>T | ENSP00000506336.1:p.Cys2151= | |
| ENST00000680778.1:c.4164C>T | ENSP00000506033.1:p.Cys1388= | |
| ENST00000680924.1:c.*3967C>T | ENSP00000506031.1:n.*3967C>T | |
| ENST00000681135.1:c.*4176C>T | ENSP00000506636.1:n.*4176C>T | |
| ENST00000681298.1:n.4672C>T | ||
| ENST00000681454.1:c.*5803C>T | ENSP00000505763.1:n.*5803C>T | |
| ENST00000277541.6:c.6567C>T | ENSP00000277541.6:p.Cys2189= | |
| NM_017617.3:c.6567C>T | NP_060087.3:p.Cys2189= | |
| XM_011518717.1:c.5868C>T | XP_011517019.1:p.Cys1956= | |
| NM_017617.5:c.6567C>T MANE Select | NP_060087.3:p.Cys2189= | |
| XM_011518717.2:c.5844C>T | XP_011517019.2:p.Cys1948= |