Linked Data
dbSNP Id:
rs782204727
ExAC:
19:42474638 T / C
gnomAD v2:
19-42474638-T-C
gnomAD v4:
19-41970486-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970486T>C , CM000681.2:g.41970486T>C | GRCh38 |
| NC_000019.9:g.42474638T>C , CM000681.1:g.42474638T>C | GRCh37 |
| NC_000019.8:g.47166478T>C | NCBI36 |
| NG_008015.1:g.28745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2359A>G | ENSP00000444688.1:p.Ile787Val | |
| ENST00000644613.1:c.2320A>G | ENSP00000494711.1:p.Ile774Val | |
| ENST00000648268.1:c.2320A>G MANE Select | ENSP00000498113.1:p.Ile774Val | |
| ENST00000302102.9:c.2320A>G | ENSP00000302397.5:p.Ile774Val | |
| ENST00000441343.5:c.2320A>G | ENSP00000411503.1:p.Ile774Val | |
| ENST00000543770.5:c.2353A>G | ENSP00000437577.1:p.Ile785Val | |
| ENST00000545399.5:c.2359A>G | ENSP00000444688.1:p.Ile787Val | |
| ENST00000602133.5:c.2230A>G | ENSP00000471581.1:p.Ile744Val | |
| NM_001256213.1:c.2353A>G | NP_001243142.1:p.Ile785Val | |
| NM_001256214.1:c.2359A>G | NP_001243143.1:p.Ile787Val | |
| NM_152296.4:c.2320A>G | NP_689509.1:p.Ile774Val | |
| XM_011526991.1:c.2230A>G | XP_011525293.1:p.Ile744Val | |
| NM_152296.5:c.2320A>G MANE Select | NP_689509.1:p.Ile774Val | |
| NM_001256214.2:c.2359A>G | NP_001243143.1:p.Ile787Val | |
| NM_001256213.2:c.2353A>G | NP_001243142.1:p.Ile785Val |