Linked Data
dbSNP Id:
rs10119004
gnomAD v2:
9-5071049-G-A
gnomAD v3:
9-5071049-G-A
gnomAD v4:
9-5071049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5071049G>A , CM000671.2:g.5071049G>A | GRCh38 |
| NC_000009.11:g.5071049G>A , CM000671.1:g.5071049G>A | GRCh37 |
| NC_000009.10:g.5061049G>A | NCBI36 |
| NG_009904.1:g.90805G>A , LRG_612:g.90805G>A | |
| NG_046969.1:g.119662C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381652.4:c.1641+997G>A (JAK2) MANE Select | ENSP00000371067.4:n.1641+997G>A | |
| ENST00000636127.1:c.1641+997G>A (JAK2) | ENSP00000489812.1:n.1641+997G>A | |
| ENST00000381652.3:c.1641+997G>A (JAK2) | ENSP00000371067.3:n.1641+997G>A | |
| NM_004972.3:c.1641+997G>A , LRG_612t1:c.1641+997G>A (JAK2) | NP_004963.1:n.1641+997G>A | |
| XM_011517701.1:c.377-55705C>T (INSL6) | XP_011516003.1:n.377-55705C>T | |
| XM_011517702.1:c.377-78616C>T (INSL6) | XP_011516004.1:n.377-78616C>T | |
| XR_929169.1:n.485-55705C>T (INSL6) | ||
| NM_001322194.1:c.1641+997G>A (JAK2) | NP_001309123.1:n.1641+997G>A | |
| NM_001322195.1:c.1641+997G>A (JAK2) | NP_001309124.1:n.1641+997G>A | |
| NM_001322196.1:c.1641+997G>A (JAK2) | NP_001309125.1:n.1641+997G>A | |
| NM_001322198.1:c.426+997G>A (JAK2) | NP_001309127.1:n.426+997G>A | |
| NM_001322199.1:c.426+997G>A (JAK2) | NP_001309128.1:n.426+997G>A | |
| NM_001322204.1:c.1194+997G>A (JAK2) | NP_001309133.1:n.1194+997G>A | |
| XM_011517702.3:c.377-78616C>T (INSL6) | XP_011516004.1:n.377-78616C>T | |
| NM_004972.4:c.1641+997G>A (JAK2) MANE Select | NP_004963.1:n.1641+997G>A | |
| NM_001322194.2:c.1641+997G>A (JAK2) | NP_001309123.1:n.1641+997G>A | |
| NM_001322195.2:c.1641+997G>A (JAK2) | NP_001309124.1:n.1641+997G>A | |
| NM_001322196.2:c.1641+997G>A (JAK2) | NP_001309125.1:n.1641+997G>A | |
| NM_001322198.2:c.426+997G>A (JAK2) | NP_001309127.1:n.426+997G>A | |
| NM_001322199.2:c.426+997G>A (JAK2) | NP_001309128.1:n.426+997G>A | |
| NM_001322204.2:c.1194+997G>A (JAK2) | NP_001309133.1:n.1194+997G>A | |
| NR_169763.1:n.2125+997G>A (JAK2) | ||
| NR_169764.1:n.2042+997G>A (JAK2) |