Linked Data
dbSNP Id:
rs758884951
ExAC:
4:69512888 G / C
gnomAD v2:
4-69512888-G-C
gnomAD v4:
4-68647170-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647170G>C , CM000666.2:g.68647170G>C | GRCh38 |
| NC_000004.11:g.69512888G>C , CM000666.1:g.69512888G>C | GRCh37 |
| NC_000004.10:g.69195483G>C | NCBI36 |
| NG_052676.1:g.28607C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1527C>G MANE Select | ENSP00000341045.5:p.Ile509Met | |
| ENST00000338206.5:c.1527C>G | ENSP00000341045.5:p.Ile509Met | |
| ENST00000616841.4:c.1527C>G | ENSP00000482004.1:p.Ile509Met | |
| NM_001076.3:c.1527C>G | NP_001067.2:p.Ile509Met | |
| NM_001076.4:c.1527C>G MANE Select | NP_001067.2:p.Ile509Met |