Linked Data
dbSNP Id:
rs17158189
gnomAD v2:
10-43293602-A-G
gnomAD v3:
10-42798154-A-G
gnomAD v4:
10-42798154-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.42798154A>G , CM000672.2:g.42798154A>G | GRCh38 |
| NC_000010.10:g.43293602A>G , CM000672.1:g.43293602A>G | GRCh37 |
| NC_000010.9:g.42613608A>G | NCBI36 |
| NG_046921.1:g.20649A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374518.6:c.2090-314A>G MANE Select | ENSP00000363642.4:n.2090-314A>G | |
| ENST00000374518.5:c.2090-314A>G | ENSP00000363642.4:n.2090-314A>G | |
| NM_014753.3:c.2090-314A>G | NP_055568.3:n.2090-314A>G | |
| XM_005271846.2:c.2090-314A>G | XP_005271903.1:n.2090-314A>G | |
| XM_005271847.2:c.1901-314A>G | XP_005271904.1:n.1901-314A>G | |
| XM_005271848.2:c.2090-314A>G | XP_005271905.1:n.2090-314A>G | |
| XM_005271849.2:c.2090-314A>G | XP_005271906.1:n.2090-314A>G | |
| XM_006718081.2:c.2090-314A>G | XP_006718144.1:n.2090-314A>G | |
| XM_011540402.1:c.2090-314A>G | XP_011538704.1:n.2090-314A>G | |
| XM_011540403.1:c.857-314A>G | XP_011538705.1:n.857-314A>G | |
| XR_246522.1:n.2179-314A>G | ||
| XR_428728.2:n.2179-314A>G | ||
| XM_005271846.3:c.2090-314A>G | XP_005271903.1:n.2090-314A>G | |
| XM_005271848.3:c.2090-314A>G | XP_005271905.1:n.2090-314A>G | |
| XM_011540402.2:c.2090-314A>G | XP_011538704.1:n.2090-314A>G | |
| XM_011540403.2:c.857-314A>G | XP_011538705.1:n.857-314A>G | |
| XR_001747266.1:n.2179-314A>G | ||
| XR_002957049.1:n.2179-314A>G | ||
| NM_014753.4:c.2090-314A>G MANE Select | NP_055568.3:n.2090-314A>G |