Linked Data
dbSNP Id:
rs16977195
gnomAD v2:
15-86984240-A-G
gnomAD v3:
15-86441009-A-G
gnomAD v4:
15-86441009-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.86441009A>G , CM000677.2:g.86441009A>G | GRCh38 |
| NC_000015.9:g.86984240A>G , CM000677.1:g.86984240A>G | GRCh37 |
| NC_000015.8:g.84785244A>G | NCBI36 |
| NG_033836.1:g.303999A>G | |
| NG_033836.2:g.366202A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441037.7:c.2555+43463A>G | ENSP00000413001.3:n.2555+43463A>G | |
| ENST00000614907.3:c.2555+43463A>G MANE Select | ENSP00000490608.2:n.2555+43463A>G | |
| ENST00000421325.3:c.2417+43463A>G | ENSP00000397173.3:n.2417+43463A>G | |
| ENST00000441037.6:c.2417+43463A>G | ENSP00000413001.2:n.2417+43463A>G | |
| NM_152336.2:c.2417+43463A>G | NP_689549.2:n.2417+43463A>G | |
| XM_011521226.1:c.2555+43463A>G | XP_011519528.1:n.2555+43463A>G | |
| XM_011521227.1:c.2555+43463A>G | XP_011519529.1:n.2555+43463A>G | |
| XR_931750.1:n.2596+43463A>G | ||
| NM_152336.3:c.2555+43463A>G | NP_689549.3:n.2555+43463A>G | |
| XM_011521226.3:c.2555+43463A>G | XP_011519528.1:n.2555+43463A>G | |
| XM_011521227.3:c.2555+43463A>G | XP_011519529.1:n.2555+43463A>G | |
| XM_017021918.2:c.2522+43463A>G | XP_016877407.1:n.2522+43463A>G | |
| XM_017021919.2:c.2471+43463A>G | XP_016877408.1:n.2471+43463A>G | |
| XR_931750.3:n.2744+43463A>G | ||
| NM_152336.4:c.2555+43463A>G | NP_689549.3:n.2555+43463A>G | |
| NM_001386094.1:c.2555+43463A>G MANE Select | NP_001373023.1:n.2555+43463A>G |