Linked Data
dbSNP Id:
rs199723815
ExAC:
6:32411210 T / C
gnomAD v2:
6-32411210-T-C
gnomAD v3:
6-32443433-T-C
gnomAD v4:
6-32443433-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443433T>C , CM000668.2:g.32443433T>C | GRCh38 |
| NC_000006.11:g.32411210T>C , CM000668.1:g.32411210T>C | GRCh37 |
| NC_000006.10:g.32519188T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.577T>C MANE Select | ENSP00000378786.2:p.Trp193Arg | |
| ENST00000374982.5:c.502T>C | ENSP00000364121.5:p.Trp168Arg | |
| ENST00000395388.6:c.577T>C | ENSP00000378786.2:p.Trp193Arg | |
| NM_019111.4:c.577T>C | NP_061984.2:p.Trp193Arg | |
| NM_019111.5:c.577T>C MANE Select | NP_061984.2:p.Trp193Arg |