Linked Data
dbSNP Id:
rs1151640
ExAC:
1:247835950 T / C
gnomAD v2:
1-247835950-T-C
gnomAD v3:
1-247672648-T-C
gnomAD v4:
1-247672648-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247672648T>C , CM000663.2:g.247672648T>C | GRCh38 |
| NC_000001.10:g.247835950T>C , CM000663.1:g.247835950T>C | GRCh37 |
| NC_000001.9:g.245902573T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359688.4:c.394A>G | ENSP00000352717.2:p.Ile132Val | |
| ENST00000642119.1:c.394A>G MANE Select | ENSP00000493110.1:p.Ile132Val | |
| ENST00000359688.3:c.394A>G | ENSP00000352717.2:p.Ile132Val | |
| NM_001005487.1:c.394A>G | NP_001005487.1:p.Ile132Val | |
| NM_001005487.2:c.394A>G MANE Select | NP_001005487.1:p.Ile132Val |