Revel Score:
ENST00000539801
0.570
ENST00000381652 (MANE Select)
0.570
ENST00000544510
0.570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5089726C>G , CM000671.2:g.5089726C>G | GRCh38 |
| NC_000009.11:g.5089726C>G , CM000671.1:g.5089726C>G | GRCh37 |
| NC_000009.10:g.5079726C>G | NCBI36 |
| NG_009904.1:g.109482C>G , LRG_612:g.109482C>G | |
| NG_046969.1:g.100985G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.2624C>G (JAK2) MANE Select | ENSP00000371067.4:p.Thr875Ser | |
| ENST00000381652.3:c.2624C>G (JAK2) | ENSP00000371067.3:p.Thr875Ser | |
| NM_004972.3:c.2624C>G , LRG_612t1:c.2624C>G (JAK2) | NP_004963.1:p.Thr875Ser | |
| XM_011517701.1:c.377-74382G>C (INSL6) | XP_011516003.1:n.377-74382G>C | |
| XM_011517702.1:c.376+74453G>C (INSL6) | XP_011516004.1:n.376+74453G>C | |
| XR_929169.1:n.485-74382G>C (INSL6) | ||
| NM_001322194.1:c.2624C>G (JAK2) | NP_001309123.1:p.Thr875Ser | |
| NM_001322195.1:c.2624C>G (JAK2) | NP_001309124.1:p.Thr875Ser | |
| NM_001322196.1:c.2624C>G (JAK2) | NP_001309125.1:p.Thr875Ser | |
| NM_001322198.1:c.1409C>G (JAK2) | NP_001309127.1:p.Thr470Ser | |
| NM_001322199.1:c.1409C>G (JAK2) | NP_001309128.1:p.Thr470Ser | |
| NM_001322204.1:c.2177C>G (JAK2) | NP_001309133.1:p.Thr726Ser | |
| XM_011517702.3:c.376+74453G>C (INSL6) | XP_011516004.1:n.376+74453G>C | |
| NM_004972.4:c.2624C>G (JAK2) MANE Select | NP_004963.1:p.Thr875Ser | |
| NM_001322194.2:c.2624C>G (JAK2) | NP_001309123.1:p.Thr875Ser | |
| NM_001322195.2:c.2624C>G (JAK2) | NP_001309124.1:p.Thr875Ser | |
| NM_001322196.2:c.2624C>G (JAK2) | NP_001309125.1:p.Thr875Ser | |
| NM_001322198.2:c.1409C>G (JAK2) | NP_001309127.1:p.Thr470Ser | |
| NM_001322199.2:c.1409C>G (JAK2) | NP_001309128.1:p.Thr470Ser | |
| NM_001322204.2:c.2177C>G (JAK2) | NP_001309133.1:p.Thr726Ser | |
| NR_169763.1:n.3108C>G (JAK2) | ||
| NR_169764.1:n.3025C>G (JAK2) |