Linked Data
dbSNP Id:
rs764041694
ExAC:
5:172659884 T / G
gnomAD v2:
5-172659884-T-G
gnomAD v4:
5-173232881-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232881T>G , CM000667.2:g.173232881T>G | GRCh38 |
| NC_000005.9:g.172659884T>G , CM000667.1:g.172659884T>G | GRCh37 |
| NC_000005.8:g.172592490T>G | NCBI36 |
| NG_013340.1:g.7432A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.663A>C MANE Select | ENSP00000327758.4:p.Pro221= | |
| ENST00000329198.4:c.663A>C | ENSP00000327758.4:p.Pro221= | |
| NM_001166175.1:c.*616A>C | NP_001159647.1:n.*616A>C | |
| NM_001166176.1:c.*462A>C | NP_001159648.1:n.*462A>C | |
| NM_004387.3:c.663A>C | NP_004378.1:p.Pro221= | |
| NM_004387.4:c.663A>C MANE Select | NP_004378.1:p.Pro221= | |
| NM_001166175.2:c.*616A>C | NP_001159647.1:n.*616A>C | |
| NM_001166176.2:c.*462A>C | NP_001159648.1:n.*462A>C |