Linked Data
ClinVar Variation Id:
1042365
ClinVar RCV Id:
RCV001346302
dbSNP Id:
rs1842929880
MyVariant Identifiers:
chr9:g.139391606G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497154G>A , CM000671.2:g.136497154G>A | GRCh38 |
| NC_000009.11:g.139391606G>A , CM000671.1:g.139391606G>A | GRCh37 |
| NC_000009.10:g.138511427G>A | NCBI36 |
| NG_007458.1:g.53633C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6585C>T MANE Select | ENSP00000498587.1:p.Gly2195= | |
| ENST00000679595.1:c.*1625C>T | ENSP00000506241.1:n.*1625C>T | |
| ENST00000679969.1:n.3181C>T | ||
| ENST00000680003.1:n.2917C>T | ||
| ENST00000680133.1:c.6471C>T | ENSP00000505319.1:p.Gly2157= | |
| ENST00000680218.1:c.6465C>T | ENSP00000505339.1:p.Gly2155= | |
| ENST00000680668.1:c.6471C>T | ENSP00000506336.1:p.Gly2157= | |
| ENST00000680778.1:c.4182C>T | ENSP00000506033.1:p.Gly1394= | |
| ENST00000680924.1:c.*3985C>T | ENSP00000506031.1:n.*3985C>T | |
| ENST00000681135.1:c.*4194C>T | ENSP00000506636.1:n.*4194C>T | |
| ENST00000681298.1:n.4690C>T | ||
| ENST00000681454.1:c.*5821C>T | ENSP00000505763.1:n.*5821C>T | |
| ENST00000277541.6:c.6585C>T | ENSP00000277541.6:p.Gly2195= | |
| NM_017617.3:c.6585C>T | NP_060087.3:p.Gly2195= | |
| XM_011518717.1:c.5886C>T | XP_011517019.1:p.Gly1962= | |
| NM_017617.5:c.6585C>T MANE Select | NP_060087.3:p.Gly2195= | |
| XM_011518717.2:c.5862C>T | XP_011517019.2:p.Gly1954= |