Linked Data
dbSNP Id:
rs1565169540
gnomAD v2:
11-57367532-A-G
gnomAD v3:
11-57600059-A-G
gnomAD v4:
11-57600059-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600059A>G , CM000673.2:g.57600059A>G | GRCh38 |
| NC_000011.9:g.57367532A>G , CM000673.1:g.57367532A>G | GRCh37 |
| NC_000011.8:g.57124108A>G | NCBI36 |
| NG_009625.1:g.7506A>G , LRG_105:g.7506A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.232A>G MANE Select | ENSP00000278407.4:p.Ile78Val | |
| ENST00000528996.2:c.58+1731A>G | ENSP00000431226.2:n.58+1731A>G | |
| ENST00000531605.2:c.51+1738A>G | ENSP00000503752.1:n.51+1738A>G | |
| ENST00000619430.2:c.232A>G | ENSP00000478572.2:p.Ile78Val | |
| ENST00000676670.1:c.232A>G | ENSP00000504807.1:p.Ile78Val | |
| ENST00000676741.1:n.1314A>G | ||
| ENST00000677275.1:n.219A>G | ||
| ENST00000677624.1:c.232A>G | ENSP00000503979.1:p.Ile78Val | |
| ENST00000677625.1:c.232A>G | ENSP00000502857.1:p.Ile78Val | |
| ENST00000677856.1:n.291A>G | ||
| ENST00000677915.1:c.232A>G | ENSP00000503118.1:p.Ile78Val | |
| ENST00000678533.1:c.51+1738A>G | ENSP00000503873.1:n.51+1738A>G | |
| ENST00000678592.1:c.232A>G | ENSP00000504424.1:p.Ile78Val | |
| ENST00000278407.8:c.232A>G | ENSP00000278407.4:p.Ile78Val | |
| ENST00000340687.10:c.232A>G | ENSP00000341861.6:p.Ile78Val | |
| ENST00000378323.8:c.247A>G | ENSP00000367574.4:p.Ile83Val | |
| ENST00000378324.6:c.76A>G | ENSP00000367575.2:p.Ile26Val | |
| ENST00000403558.1:c.334A>G | ENSP00000384420.1:p.Ile112Val | |
| ENST00000405496.5:c.232A>G | ENSP00000384561.1:p.Ile78Val | |
| ENST00000457869.1:c.334A>G | ENSP00000399746.1:p.Ile112Val | |
| ENST00000531133.5:c.51+1738A>G | ENSP00000435431.1:n.51+1738A>G | |
| ENST00000531797.5:c.51+1738A>G | ENSP00000432554.1:n.51+1738A>G | |
| ENST00000619430.1:c.232A>G | ENSP00000478572.1:p.Ile78Val | |
| NM_000062.2:c.232A>G , LRG_105t1:c.232A>G | NP_000053.2:p.Ile78Val | |
| NM_001032295.1:c.232A>G | NP_001027466.1:p.Ile78Val | |
| NM_000062.3:c.232A>G MANE Select | NP_000053.2:p.Ile78Val | |
| NM_001032295.2:c.232A>G | NP_001027466.1:p.Ile78Val |