Linked Data
dbSNP Id:
rs371227397
ExAC:
7:87031573 T / C
gnomAD v2:
7-87031573-T-C
gnomAD v4:
7-87402257-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87402257T>C , CM000669.2:g.87402257T>C | GRCh38 |
| NC_000007.13:g.87031573T>C , CM000669.1:g.87031573T>C | GRCh37 |
| NC_000007.12:g.86869509T>C | NCBI36 |
| NG_007118.1:g.83176A>G | |
| NG_007118.2:g.83176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.3679A>G | ENSP00000352135.3:p.Ile1227Val | |
| ENST00000649586.2:c.3679A>G MANE Select | ENSP00000496956.2:p.Ile1227Val | |
| ENST00000265723.8:c.3700A>G | ENSP00000265723.4:p.Ile1234Val | |
| ENST00000358400.7:c.3538A>G | ENSP00000351172.3:p.Ile1180Val | |
| ENST00000359206.7:c.3679A>G | ENSP00000352135.3:p.Ile1227Val | |
| ENST00000440025.1:c.113A>G | ||
| ENST00000453593.5:c.3538A>G | ENSP00000392983.1:p.Ile1180Val | |
| ENST00000467983.1:n.291A>G | ||
| NM_000443.3:c.3679A>G | NP_000434.1:p.Ile1227Val | |
| NM_018849.2:c.3700A>G | NP_061337.1:p.Ile1234Val | |
| NM_018850.2:c.3538A>G | NP_061338.1:p.Ile1180Val | |
| XM_011516308.1:c.3700A>G | XP_011514610.1:p.Ile1234Val | |
| XM_011516309.1:c.3679A>G | XP_011514611.1:p.Ile1227Val | |
| XM_011516310.1:c.3595A>G | XP_011514612.1:p.Ile1199Val | |
| XM_011516311.1:c.3571A>G | XP_011514613.1:p.Ile1191Val | |
| XM_011516312.1:c.3559A>G | XP_011514614.1:p.Ile1187Val | |
| XM_011516313.1:c.3538A>G | XP_011514615.1:p.Ile1180Val | |
| XM_011516314.1:c.3721A>G | XP_011514616.1:p.Ile1241Val | |
| XM_011516315.1:c.3040A>G | XP_011514617.1:p.Ile1014Val | |
| XM_011516308.3:c.3970A>G | XP_011514610.3:p.Ile1324Val | |
| XM_011516309.3:c.3949A>G | XP_011514611.3:p.Ile1317Val | |
| XM_011516310.3:c.3865A>G | XP_011514612.3:p.Ile1289Val | |
| XM_011516311.3:c.3841A>G | XP_011514613.3:p.Ile1281Val | |
| XM_011516312.3:c.3829A>G | XP_011514614.3:p.Ile1277Val | |
| XM_011516313.3:c.3808A>G | XP_011514615.2:p.Ile1270Val | |
| XM_011516315.3:c.3040A>G | XP_011514617.2:p.Ile1014Val | |
| XM_017012323.2:c.3700A>G | XP_016867812.1:p.Ile1234Val | |
| XR_001744809.2:n.4208A>G | ||
| NM_000443.4:c.3679A>G MANE Select | NP_000434.1:p.Ile1227Val | |
| NM_018849.3:c.3700A>G | NP_061337.1:p.Ile1234Val | |
| NM_018850.3:c.3538A>G | NP_061338.1:p.Ile1180Val |