Revel Score:
ENST00000539801
0.631
ENST00000381652 (MANE Select)
0.631
ENST00000544510
0.631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5073770G>A , CM000671.2:g.5073770G>A | GRCh38 |
| NC_000009.11:g.5073770G>A , CM000671.1:g.5073770G>A | GRCh37 |
| NC_000009.10:g.5063770G>A | NCBI36 |
| NG_009904.1:g.93526G>A , LRG_612:g.93526G>A | |
| NG_046969.1:g.116941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.1849G>A (JAK2) MANE Select | ENSP00000371067.4:p.Val617Ile | |
| ENST00000636127.1:c.1849G>A (JAK2) | ENSP00000489812.1:p.Val617Ile | |
| ENST00000381652.3:c.1849G>A (JAK2) | ENSP00000371067.3:p.Val617Ile | |
| NM_004972.3:c.1849G>A , LRG_612t1:c.1849G>A (JAK2) | NP_004963.1:p.Val617Ile | |
| XM_011517701.1:c.377-58426C>T (INSL6) | XP_011516003.1:n.377-58426C>T | |
| XM_011517702.1:c.377-81337C>T (INSL6) | XP_011516004.1:n.377-81337C>T | |
| XR_929169.1:n.485-58426C>T (INSL6) | ||
| NM_001322194.1:c.1849G>A (JAK2) | NP_001309123.1:p.Val617Ile | |
| NM_001322195.1:c.1849G>A (JAK2) | NP_001309124.1:p.Val617Ile | |
| NM_001322196.1:c.1849G>A (JAK2) | NP_001309125.1:p.Val617Ile | |
| NM_001322198.1:c.634G>A (JAK2) | NP_001309127.1:p.Val212Ile | |
| NM_001322199.1:c.634G>A (JAK2) | NP_001309128.1:p.Val212Ile | |
| NM_001322204.1:c.1402G>A (JAK2) | NP_001309133.1:p.Val468Ile | |
| XM_011517702.3:c.377-81337C>T (INSL6) | XP_011516004.1:n.377-81337C>T | |
| NM_004972.4:c.1849G>A (JAK2) MANE Select | NP_004963.1:p.Val617Ile | |
| NM_001322194.2:c.1849G>A (JAK2) | NP_001309123.1:p.Val617Ile | |
| NM_001322195.2:c.1849G>A (JAK2) | NP_001309124.1:p.Val617Ile | |
| NM_001322196.2:c.1849G>A (JAK2) | NP_001309125.1:p.Val617Ile | |
| NM_001322198.2:c.634G>A (JAK2) | NP_001309127.1:p.Val212Ile | |
| NM_001322199.2:c.634G>A (JAK2) | NP_001309128.1:p.Val212Ile | |
| NM_001322204.2:c.1402G>A (JAK2) | NP_001309133.1:p.Val468Ile | |
| NR_169763.1:n.2333G>A (JAK2) | ||
| NR_169764.1:n.2250G>A (JAK2) |