Linked Data
dbSNP Id:
rs2301747
gnomAD v2:
6-31371587-C-G
gnomAD v3:
6-31403810-C-G
gnomAD v4:
6-31403810-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31403810C>G , CM000668.2:g.31403810C>G | GRCh38 |
| NC_000006.11:g.31371587C>G , CM000668.1:g.31371587C>G | GRCh37 |
| NC_000006.10:g.31479566C>G | NCBI36 |
| NG_034139.1:g.9027C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449934.7:c.70+108C>G MANE Select | ENSP00000413079.1:n.70+108C>G | |
| ENST00000673647.1:c.70+108C>G | ENSP00000500967.1:n.70+108C>G | |
| ENST00000673996.1:n.79+3027C>G | ||
| ENST00000674069.1:c.-173+3047C>G | ENSP00000501157.1:n.-173+3047C>G | |
| ENST00000421350.1:c.31+108C>G | ENSP00000402410.1:n.31+108C>G | |
| ENST00000449934.6:c.70+108C>G | ENSP00000413079.1:n.70+108C>G | |
| ENST00000616296.4:c.-222+3027C>G | ENSP00000482382.1:n.-222+3027C>G | |
| NM_001177519.2:c.70+108C>G | NP_001170990.1:n.70+108C>G | |
| NM_001289152.1:c.-222+3027C>G | NP_001276081.1:n.-222+3027C>G | |
| NM_001289153.1:c.-222+3047C>G | NP_001276082.1:n.-222+3047C>G | |
| NM_001289154.1:c.-173+3047C>G | NP_001276083.1:n.-173+3047C>G | |
| NM_001177519.3:c.70+108C>G MANE Select | NP_001170990.1:n.70+108C>G | |
| NM_001289152.2:c.-222+3027C>G | NP_001276081.1:n.-222+3027C>G | |
| NM_001289153.2:c.-222+3047C>G | NP_001276082.1:n.-222+3047C>G | |
| NM_001289154.2:c.-173+3047C>G | NP_001276083.1:n.-173+3047C>G |