Linked Data
ClinVar Variation Id:
367129
ClinVar RCV Id:
RCV001643113
dbSNP Id:
rs2230724
ExAC:
9:5081780 G / A
gnomAD v2:
9-5081780-G-A
gnomAD v3:
9-5081780-G-A
gnomAD v4:
9-5081780-G-A
COSMIC:
COSM3763953
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5081780G>A , CM000671.2:g.5081780G>A | GRCh38 |
| NC_000009.11:g.5081780G>A , CM000671.1:g.5081780G>A | GRCh37 |
| NC_000009.10:g.5071780G>A | NCBI36 |
| NG_009904.1:g.101536G>A , LRG_612:g.101536G>A | |
| NG_046969.1:g.108931C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381652.4:c.2490G>A (JAK2) MANE Select | ENSP00000371067.4:p.Leu830= | |
| ENST00000381652.3:c.2490G>A (JAK2) | ENSP00000371067.3:p.Leu830= | |
| NM_004972.3:c.2490G>A , LRG_612t1:c.2490G>A (JAK2) | NP_004963.1:p.Leu830= | |
| XM_011517701.1:c.377-66436C>T (INSL6) | XP_011516003.1:n.377-66436C>T | |
| XM_011517702.1:c.376+82399C>T (INSL6) | XP_011516004.1:n.376+82399C>T | |
| XR_929169.1:n.485-66436C>T (INSL6) | ||
| NM_001322194.1:c.2490G>A (JAK2) | NP_001309123.1:p.Leu830= | |
| NM_001322195.1:c.2490G>A (JAK2) | NP_001309124.1:p.Leu830= | |
| NM_001322196.1:c.2490G>A (JAK2) | NP_001309125.1:p.Leu830= | |
| NM_001322198.1:c.1275G>A (JAK2) | NP_001309127.1:p.Leu425= | |
| NM_001322199.1:c.1275G>A (JAK2) | NP_001309128.1:p.Leu425= | |
| NM_001322204.1:c.2043G>A (JAK2) | NP_001309133.1:p.Leu681= | |
| XM_011517702.3:c.376+82399C>T (INSL6) | XP_011516004.1:n.376+82399C>T | |
| NM_004972.4:c.2490G>A (JAK2) MANE Select | NP_004963.1:p.Leu830= | |
| NM_001322194.2:c.2490G>A (JAK2) | NP_001309123.1:p.Leu830= | |
| NM_001322195.2:c.2490G>A (JAK2) | NP_001309124.1:p.Leu830= | |
| NM_001322196.2:c.2490G>A (JAK2) | NP_001309125.1:p.Leu830= | |
| NM_001322198.2:c.1275G>A (JAK2) | NP_001309127.1:p.Leu425= | |
| NM_001322199.2:c.1275G>A (JAK2) | NP_001309128.1:p.Leu425= | |
| NM_001322204.2:c.2043G>A (JAK2) | NP_001309133.1:p.Leu681= | |
| NR_169763.1:n.2974G>A (JAK2) | ||
| NR_169764.1:n.2891G>A (JAK2) |