Linked Data
dbSNP Id:
rs2236313
ExAC:
6:167360389 T / C
gnomAD v2:
6-167360389-T-C
gnomAD v3:
6-166946901-T-C
gnomAD v4:
6-166946901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166946901T>C , CM000668.2:g.166946901T>C | GRCh38 |
| NC_000006.11:g.167360389T>C , CM000668.1:g.167360389T>C | GRCh37 |
| NC_000006.10:g.167280379T>C | NCBI36 |
| NG_016280.1:g.14689A>G | |
| NG_016280.2:g.14689A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611959.2:c.148-162A>G | ENSP00000480244.2:n.148-162A>G | |
| ENST00000620173.5:c.148-3812A>G | ENSP00000482755.2:n.148-3812A>G | |
| ENST00000682498.1:n.2160A>G | ||
| ENST00000682774.1:c.204-162A>G | ENSP00000507399.1:n.204-162A>G | |
| ENST00000683158.1:n.365-162A>G | ||
| ENST00000683770.1:c.87-7893A>G | ENSP00000507710.1:n.87-7893A>G | |
| ENST00000683968.1:n.2696-162A>G | ||
| ENST00000684236.1:c.-73-162A>G | ENSP00000508128.1:n.-73-162A>G | |
| ENST00000508775.6:c.204-162A>G MANE Select | ENSP00000426455.2:n.204-162A>G | |
| ENST00000028008.9:c.208-162A>G | ENSP00000028008.5:n.208-162A>G | |
| ENST00000358165.7:n.244-3812A>G | ||
| ENST00000366855.10:c.90-162A>G | ENSP00000424947.1:n.90-162A>G | |
| ENST00000421787.5:c.204-162A>G | ENSP00000390833.1:n.204-162A>G | |
| ENST00000476238.6:c.204-162A>G | ENSP00000422846.1:n.204-162A>G | |
| ENST00000478180.6:c.204-162A>G | ENSP00000426059.1:n.204-162A>G | |
| ENST00000496851.6:n.104-162A>G | ||
| ENST00000499370.6:n.1150-162A>G | ||
| ENST00000507747.1:c.146-162A>G | ||
| ENST00000508775.5:c.204-162A>G | ENSP00000426455.1:n.204-162A>G | |
| ENST00000611959.1:c.204-162A>G | ENSP00000480244.1:n.204-162A>G | |
| ENST00000620173.4:c.204-162A>G | ENSP00000482755.1:n.204-162A>G | |
| NM_003730.4:c.204-162A>G | NP_003721.2:n.204-162A>G | |
| NM_003730.5:c.204-162A>G | NP_003721.2:n.204-162A>G | |
| XM_017011397.1:c.90-162A>G | XP_016866886.1:n.90-162A>G | |
| XM_017011398.1:c.-73-162A>G | XP_016866887.1:n.-73-162A>G | |
| XM_017011399.1:c.204-162A>G | XP_016866888.1:n.204-162A>G | |
| XM_024446575.1:c.-73-162A>G | XP_024302343.1:n.-73-162A>G | |
| XM_024446576.1:c.-73-162A>G | XP_024302344.1:n.-73-162A>G | |
| NM_003730.6:c.204-162A>G MANE Select | NP_003721.2:n.204-162A>G |