Linked Data
dbSNP Id:
rs759640593
ExAC:
6:6145865 C / T
gnomAD v2:
6-6145865-C-T
gnomAD v3:
6-6145632-C-T
gnomAD v4:
6-6145632-C-T
COSMIC:
COSM5530720
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145632C>T , CM000668.2:g.6145632C>T | GRCh38 |
| NC_000006.11:g.6145865C>T , CM000668.1:g.6145865C>T | GRCh37 |
| NC_000006.10:g.6090864C>T | NCBI36 |
| NG_008107.1:g.180060G>A , LRG_549:g.180060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.2186G>A MANE Select | ENSP00000264870.3:p.Arg729Gln | |
| ENST00000264870.7:c.2186G>A | ENSP00000264870.3:p.Arg729Gln | |
| NM_000129.3:c.2186G>A , LRG_549t1:c.2186G>A | NP_000120.2:p.Arg729Gln | |
| XM_006715010.2:c.2186G>A | XP_006715073.1:p.Arg729Gln | |
| XM_011514342.1:c.2348G>A | XP_011512644.1:p.Arg783Gln | |
| NM_000129.4:c.2186G>A MANE Select | NP_000120.2:p.Arg729Gln |