Linked Data
dbSNP Id:
rs780469147
ExAC:
2:163138957 T / C
gnomAD v2:
2-163138957-T-C
gnomAD v4:
2-162282447-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162282447T>C , CM000664.2:g.162282447T>C | GRCh38 |
| NC_000002.11:g.163138957T>C , CM000664.1:g.163138957T>C | GRCh37 |
| NC_000002.10:g.162847203T>C | NCBI36 |
| NG_011495.1:g.41083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697291.1:c.*822A>G | ENSP00000513228.1:n.*822A>G | |
| ENST00000648433.1:c.1225A>G | ENSP00000496816.1:p.Ile409Val | |
| ENST00000649554.1:n.835A>G | ||
| ENST00000649979.2:c.1225A>G MANE Select | ENSP00000497271.1:p.Ile409Val | |
| ENST00000679938.1:c.913A>G | ENSP00000505518.1:p.Ile305Val | |
| ENST00000263642.2:c.1225A>G | ENSP00000263642.2:p.Ile409Val | |
| NM_022168.3:c.1225A>G | NP_071451.2:p.Ile409Val | |
| XM_011511628.1:c.508A>G | XP_011509930.1:p.Ile170Val | |
| XM_011511629.1:c.1225A>G | XP_011509931.1:p.Ile409Val | |
| NM_022168.4:c.1225A>G MANE Select | NP_071451.2:p.Ile409Val |