Linked Data
dbSNP Id:
rs746543959
ExAC:
6:3225849 C / G
gnomAD v2:
6-3225849-C-G
gnomAD v3:
6-3225615-C-G
gnomAD v4:
6-3225615-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225615C>G , CM000668.2:g.3225615C>G | GRCh38 |
| NC_000006.11:g.3225849C>G , CM000668.1:g.3225849C>G | GRCh37 |
| NC_000006.10:g.3170848C>G | NCBI36 |
| NG_016715.1:g.7120G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.474G>C MANE Select | ENSP00000259818.6:p.Glu158Asp | |
| ENST00000680070.1:n.1404G>C | ||
| ENST00000681707.1:n.1301G>C | ||
| ENST00000681757.1:n.779G>C | ||
| ENST00000259818.7:c.474G>C | ENSP00000259818.6:p.Glu158Asp | |
| ENST00000473006.1:n.591G>C | ||
| NM_178012.4:c.474G>C | NP_821080.1:p.Glu158Asp | |
| XM_011514571.1:c.258G>C | XP_011512873.1:p.Glu86Asp | |
| NM_178012.5:c.474G>C MANE Select | NP_821080.1:p.Glu158Asp |