Linked Data
dbSNP Id:
rs148532609
ExAC:
6:84567003 A / G
gnomAD v2:
6-84567003-A-G
gnomAD v3:
6-83857284-A-G
gnomAD v4:
6-83857284-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83857284A>G , CM000668.2:g.83857284A>G | GRCh38 |
| NC_000006.11:g.84567003A>G , CM000668.1:g.84567003A>G | GRCh37 |
| NC_000006.10:g.84623722A>G | NCBI36 |
| NG_046722.1:g.9019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369689.6:c.282A>G MANE Select | ENSP00000358703.1:p.Gln94= | |
| ENST00000369687.2:c.108A>G | ENSP00000358701.1:p.Gln36= | |
| ENST00000369689.5:c.282A>G | ENSP00000358703.1:p.Gln94= | |
| ENST00000635617.1:n.3695A>G | ||
| NM_001009994.2:c.282A>G | NP_001009994.1:p.Gln94= | |
| NR_103525.1:n.339A>G | ||
| NR_103525.2:n.277A>G | ||
| NM_001009994.3:c.282A>G MANE Select | NP_001009994.1:p.Gln94= | |
| NM_001400774.1:c.-28+3123A>G | NP_001387703.1:n.-28+3123A>G | |
| NM_001400899.1:c.345A>G | NP_001387828.1:p.Gln115= | |
| NM_001400900.1:c.*3119A>G | NP_001387829.1:n.*3119A>G | |
| NR_174603.1:n.234+3123A>G | ||
| NR_174604.1:n.296+3123A>G | ||
| NR_174605.1:n.455+3225A>G | ||
| NR_174622.1:n.3357A>G |