Linked Data
ClinVar Variation Id:
134555
dbSNP Id:
rs41316003
ExAC:
9:5126343 G / A
gnomAD v2:
9-5126343-G-A
gnomAD v3:
9-5126343-G-A
gnomAD v4:
9-5126343-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5126343G>A , CM000671.2:g.5126343G>A | GRCh38 |
| NC_000009.11:g.5126343G>A , CM000671.1:g.5126343G>A | GRCh37 |
| NC_000009.10:g.5116343G>A | NCBI36 |
| NG_009904.1:g.146099G>A , LRG_612:g.146099G>A | |
| NG_046969.1:g.64368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.3188G>A (JAK2) MANE Select | ENSP00000371067.4:p.Arg1063His | |
| ENST00000649639.1:c.*11-1832C>T (INSL6) | ENSP00000497955.1:n.*11-1832C>T | |
| ENST00000381652.3:c.3188G>A (JAK2) | ENSP00000371067.3:p.Arg1063His | |
| ENST00000487310.1:n.379G>A (JAK2) | ||
| NM_004972.3:c.3188G>A , LRG_612t1:c.3188G>A (JAK2) | NP_004963.1:p.Arg1063His | |
| XM_011517701.1:c.376+37836C>T (INSL6) | XP_011516003.1:n.376+37836C>T | |
| XM_011517702.1:c.376+37836C>T (INSL6) | XP_011516004.1:n.376+37836C>T | |
| XR_929169.1:n.484+37836C>T (INSL6) | ||
| NM_001322194.1:c.3188G>A (JAK2) | NP_001309123.1:p.Arg1063His | |
| NM_001322195.1:c.3188G>A (JAK2) | NP_001309124.1:p.Arg1063His | |
| NM_001322196.1:c.3188G>A (JAK2) | NP_001309125.1:p.Arg1063His | |
| NM_001322198.1:c.1973G>A (JAK2) | NP_001309127.1:p.Arg658His | |
| NM_001322199.1:c.1973G>A (JAK2) | NP_001309128.1:p.Arg658His | |
| NM_001322204.1:c.2741G>A (JAK2) | NP_001309133.1:p.Arg914His | |
| XM_011517702.3:c.376+37836C>T (INSL6) | XP_011516004.1:n.376+37836C>T | |
| NM_004972.4:c.3188G>A (JAK2) MANE Select | NP_004963.1:p.Arg1063His | |
| NM_001322194.2:c.3188G>A (JAK2) | NP_001309123.1:p.Arg1063His | |
| NM_001322195.2:c.3188G>A (JAK2) | NP_001309124.1:p.Arg1063His | |
| NM_001322196.2:c.3188G>A (JAK2) | NP_001309125.1:p.Arg1063His | |
| NM_001322198.2:c.1973G>A (JAK2) | NP_001309127.1:p.Arg658His | |
| NM_001322199.2:c.1973G>A (JAK2) | NP_001309128.1:p.Arg658His | |
| NM_001322204.2:c.2741G>A (JAK2) | NP_001309133.1:p.Arg914His | |
| NR_169763.1:n.3672G>A (JAK2) | ||
| NR_169764.1:n.3589G>A (JAK2) |