Linked Data
dbSNP Id:
rs3780374
gnomAD v2:
9-5099677-G-A
gnomAD v3:
9-5099677-G-A
gnomAD v4:
9-5099677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5099677G>A , CM000671.2:g.5099677G>A | GRCh38 |
| NC_000009.11:g.5099677G>A , CM000671.1:g.5099677G>A | GRCh37 |
| NC_000009.10:g.5089677G>A | NCBI36 |
| NG_009904.1:g.119433G>A , LRG_612:g.119433G>A | |
| NG_046969.1:g.91034C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381652.4:c.3059+8766G>A (JAK2) MANE Select | ENSP00000371067.4:n.3059+8766G>A | |
| ENST00000381652.3:c.3059+8766G>A (JAK2) | ENSP00000371067.3:n.3059+8766G>A | |
| ENST00000428071.1:n.118G>A (MTATP6P11) | ||
| NM_004972.3:c.3059+8766G>A , LRG_612t1:c.3059+8766G>A (JAK2) | NP_004963.1:n.3059+8766G>A | |
| XM_011517701.1:c.376+64502C>T (INSL6) | XP_011516003.1:n.376+64502C>T | |
| XM_011517702.1:c.376+64502C>T (INSL6) | XP_011516004.1:n.376+64502C>T | |
| XR_929169.1:n.484+64502C>T (INSL6) | ||
| NM_001322194.1:c.3059+8766G>A (JAK2) | NP_001309123.1:n.3059+8766G>A | |
| NM_001322195.1:c.3059+8766G>A (JAK2) | NP_001309124.1:n.3059+8766G>A | |
| NM_001322196.1:c.3059+8766G>A (JAK2) | NP_001309125.1:n.3059+8766G>A | |
| NM_001322198.1:c.1844+8766G>A (JAK2) | NP_001309127.1:n.1844+8766G>A | |
| NM_001322199.1:c.1844+8766G>A (JAK2) | NP_001309128.1:n.1844+8766G>A | |
| NM_001322204.1:c.2612+8766G>A (JAK2) | NP_001309133.1:n.2612+8766G>A | |
| XM_011517702.3:c.376+64502C>T (INSL6) | XP_011516004.1:n.376+64502C>T | |
| NM_004972.4:c.3059+8766G>A (JAK2) MANE Select | NP_004963.1:n.3059+8766G>A | |
| NM_001322194.2:c.3059+8766G>A (JAK2) | NP_001309123.1:n.3059+8766G>A | |
| NM_001322195.2:c.3059+8766G>A (JAK2) | NP_001309124.1:n.3059+8766G>A | |
| NM_001322196.2:c.3059+8766G>A (JAK2) | NP_001309125.1:n.3059+8766G>A | |
| NM_001322198.2:c.1844+8766G>A (JAK2) | NP_001309127.1:n.1844+8766G>A | |
| NM_001322199.2:c.1844+8766G>A (JAK2) | NP_001309128.1:n.1844+8766G>A | |
| NM_001322204.2:c.2612+8766G>A (JAK2) | NP_001309133.1:n.2612+8766G>A | |
| NR_169763.1:n.3543+8766G>A (JAK2) | ||
| NR_169764.1:n.3460+8766G>A (JAK2) |