Linked Data
dbSNP Id:
rs1473247
gnomAD v2:
5-158603571-T-C
gnomAD v3:
5-159176563-T-C
gnomAD v4:
5-159176563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159176563T>C , CM000667.2:g.159176563T>C | GRCh38 |
| NC_000005.9:g.158603571T>C , CM000667.1:g.158603571T>C | GRCh37 |
| NC_000005.8:g.158536149T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424310.7:c.621+69A>G MANE Select | ENSP00000409064.2:n.621+69A>G | |
| ENST00000274542.6:c.705+69A>G | ENSP00000274542.2:n.705+69A>G | |
| ENST00000424310.6:c.621+69A>G | ENSP00000409064.2:n.621+69A>G | |
| ENST00000518802.5:c.711+69A>G | ENSP00000430955.1:n.711+69A>G | |
| ENST00000519865.5:c.621+69A>G | ENSP00000430397.1:n.621+69A>G | |
| ENST00000520638.1:c.663+69A>G | ENSP00000429071.1:n.663+69A>G | |
| ENST00000521606.6:c.672+69A>G | ENSP00000430753.2:n.672+69A>G | |
| ENST00000611185.4:c.621+69A>G | ENSP00000482720.1:n.621+69A>G | |
| NM_001199380.1:c.711+69A>G | NP_001186309.1:n.711+69A>G | |
| NM_001199381.1:c.672+69A>G | NP_001186310.1:n.672+69A>G | |
| NM_001199382.1:c.663+69A>G | NP_001186311.1:n.663+69A>G | |
| NM_001199383.1:c.621+69A>G | NP_001186312.1:n.621+69A>G | |
| NM_144726.2:c.705+69A>G | NP_653327.1:n.705+69A>G | |
| XM_005265826.3:c.669+69A>G | XP_005265883.1:n.669+69A>G | |
| XM_017009138.2:c.621+69A>G | XP_016864627.1:n.621+69A>G | |
| XM_024454383.1:c.669+69A>G | XP_024310151.1:n.669+69A>G | |
| NM_001199381.2:c.672+69A>G | NP_001186310.1:n.672+69A>G | |
| NM_001199383.2:c.621+69A>G MANE Select | NP_001186312.1:n.621+69A>G | |
| NM_001199380.2:c.711+69A>G | NP_001186309.1:n.711+69A>G | |
| NM_001199382.2:c.663+69A>G | NP_001186311.1:n.663+69A>G | |
| NM_144726.3:c.705+69A>G | NP_653327.1:n.705+69A>G |