Linked Data
ClinVar Variation Id:
2714697
ClinVar RCV Id:
RCV003586907
dbSNP Id:
rs1843053321
gnomAD v4:
9-136504834-G-A
MyVariant Identifiers:
chr9:g.139399286G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136504834G>A , CM000671.2:g.136504834G>A | GRCh38 |
| NC_000009.11:g.139399286G>A , CM000671.1:g.139399286G>A | GRCh37 |
| NC_000009.10:g.138519107G>A | NCBI36 |
| NG_007458.1:g.45953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645828.1:n.2664C>T | ||
| ENST00000651671.1:c.4857C>T MANE Select | ENSP00000498587.1:p.Tyr1619= | |
| ENST00000679595.1:c.4857C>T | ENSP00000506241.1:p.Tyr1619= | |
| ENST00000680133.1:c.4743C>T | ENSP00000505319.1:p.Tyr1581= | |
| ENST00000680218.1:c.4737C>T | ENSP00000505339.1:p.Tyr1579= | |
| ENST00000680668.1:c.4743C>T | ENSP00000506336.1:p.Tyr1581= | |
| ENST00000680778.1:c.2454C>T | ENSP00000506033.1:p.Tyr818= | |
| ENST00000680924.1:c.*2257C>T | ENSP00000506031.1:n.*2257C>T | |
| ENST00000681135.1:c.*2466C>T | ENSP00000506636.1:n.*2466C>T | |
| ENST00000681298.1:n.1670C>T | ||
| ENST00000681454.1:c.*4093C>T | ENSP00000505763.1:n.*4093C>T | |
| ENST00000277541.6:c.4857C>T | ENSP00000277541.6:p.Tyr1619= | |
| ENST00000494783.1:n.12C>T | ||
| NM_017617.3:c.4857C>T | NP_060087.3:p.Tyr1619= | |
| XM_011518717.1:c.4158C>T | XP_011517019.1:p.Tyr1386= | |
| NM_017617.5:c.4857C>T MANE Select | NP_060087.3:p.Tyr1619= | |
| XM_011518717.2:c.4134C>T | XP_011517019.2:p.Tyr1378= |