Revel Score:
ENST00000539801
0.890
ENST00000381652 (MANE Select)
0.890
ENST00000544510
0.890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5078361G>T , CM000671.2:g.5078361G>T | GRCh38 |
| NC_000009.11:g.5078361G>T , CM000671.1:g.5078361G>T | GRCh37 |
| NC_000009.10:g.5068361G>T | NCBI36 |
| NG_009904.1:g.98117G>T , LRG_612:g.98117G>T | |
| NG_046969.1:g.112350C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.2048G>T (JAK2) MANE Select | ENSP00000371067.4:p.Arg683Ile | |
| ENST00000636127.1:c.2048G>T (JAK2) | ENSP00000489812.1:p.Arg683Ile | |
| ENST00000381652.3:c.2048G>T (JAK2) | ENSP00000371067.3:p.Arg683Ile | |
| NM_004972.3:c.2048G>T , LRG_612t1:c.2048G>T (JAK2) | NP_004963.1:p.Arg683Ile | |
| XM_011517701.1:c.377-63017C>A (INSL6) | XP_011516003.1:n.377-63017C>A | |
| XM_011517702.1:c.376+85818C>A (INSL6) | XP_011516004.1:n.376+85818C>A | |
| XR_929169.1:n.485-63017C>A (INSL6) | ||
| NM_001322194.1:c.2048G>T (JAK2) | NP_001309123.1:p.Arg683Ile | |
| NM_001322195.1:c.2048G>T (JAK2) | NP_001309124.1:p.Arg683Ile | |
| NM_001322196.1:c.2048G>T (JAK2) | NP_001309125.1:p.Arg683Ile | |
| NM_001322198.1:c.833G>T (JAK2) | NP_001309127.1:p.Arg278Ile | |
| NM_001322199.1:c.833G>T (JAK2) | NP_001309128.1:p.Arg278Ile | |
| NM_001322204.1:c.1601G>T (JAK2) | NP_001309133.1:p.Arg534Ile | |
| XM_011517702.3:c.376+85818C>A (INSL6) | XP_011516004.1:n.376+85818C>A | |
| NM_004972.4:c.2048G>T (JAK2) MANE Select | NP_004963.1:p.Arg683Ile | |
| NM_001322194.2:c.2048G>T (JAK2) | NP_001309123.1:p.Arg683Ile | |
| NM_001322195.2:c.2048G>T (JAK2) | NP_001309124.1:p.Arg683Ile | |
| NM_001322196.2:c.2048G>T (JAK2) | NP_001309125.1:p.Arg683Ile | |
| NM_001322198.2:c.833G>T (JAK2) | NP_001309127.1:p.Arg278Ile | |
| NM_001322199.2:c.833G>T (JAK2) | NP_001309128.1:p.Arg278Ile | |
| NM_001322204.2:c.1601G>T (JAK2) | NP_001309133.1:p.Arg534Ile | |
| NR_169763.1:n.2532G>T (JAK2) | ||
| NR_169764.1:n.2449G>T (JAK2) |