Linked Data
dbSNP Id:
rs1398440303
gnomAD v2:
1-209788717-T-C
gnomAD v3:
1-209615372-T-C
gnomAD v4:
1-209615372-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209615372T>C , CM000663.2:g.209615372T>C | GRCh38 |
| NC_000001.10:g.209788717T>C , CM000663.1:g.209788717T>C | GRCh37 |
| NC_000001.9:g.207855340T>C | NCBI36 |
| NG_007116.1:g.42104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.3418A>G MANE Select | ENSP00000348384.3:p.Ile1140Val | |
| ENST00000356082.8:c.3418A>G | ENSP00000348384.3:p.Ile1140Val | |
| ENST00000367030.7:c.3418A>G | ENSP00000355997.3:p.Ile1140Val | |
| ENST00000391911.5:c.3418A>G | ENSP00000375778.1:p.Ile1140Val | |
| NM_000228.2:c.3418A>G | NP_000219.2:p.Ile1140Val | |
| NM_001017402.1:c.3418A>G | NP_001017402.1:p.Ile1140Val | |
| NM_001127641.1:c.3418A>G | NP_001121113.1:p.Ile1140Val | |
| XM_005273124.3:c.3418A>G | XP_005273181.1:p.Ile1140Val | |
| XM_005273124.4:c.3418A>G | XP_005273181.1:p.Ile1140Val | |
| XM_017001272.2:c.3226A>G | XP_016856761.1:p.Ile1076Val | |
| NM_000228.3:c.3418A>G MANE Select | NP_000219.2:p.Ile1140Val | |
| NM_001017402.2:c.3418A>G | NP_001017402.1:p.Ile1140Val |