Linked Data
dbSNP Id:
rs17294280
gnomAD v2:
15-67468285-A-G
gnomAD v3:
15-67175947-A-G
gnomAD v4:
15-67175947-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67175947A>G , CM000677.2:g.67175947A>G | GRCh38 |
| NC_000015.9:g.67468285A>G , CM000677.1:g.67468285A>G | GRCh37 |
| NC_000015.8:g.65255339A>G | NCBI36 |
| NG_011990.1:g.115091A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558428.6:c.74-5294A>G | ENSP00000454165.2:n.74-5294A>G | |
| ENST00000558739.2:c.344-5294A>G | ENSP00000453684.2:n.344-5294A>G | |
| ENST00000558827.2:c.74-5294A>G | ENSP00000452767.2:n.74-5294A>G | |
| ENST00000559460.6:c.344-5294A>G | ENSP00000453082.2:n.344-5294A>G | |
| ENST00000560424.2:c.659-5294A>G | ENSP00000455540.2:n.659-5294A>G | |
| ENST00000327367.9:c.659-5294A>G MANE Select | ENSP00000332973.4:n.659-5294A>G | |
| ENST00000679624.1:c.344-5294A>G | ENSP00000505445.1:n.344-5294A>G | |
| ENST00000681239.1:c.344-5294A>G | ENSP00000505641.1:n.344-5294A>G | |
| ENST00000327367.8:c.659-5294A>G | ENSP00000332973.4:n.659-5294A>G | |
| ENST00000439724.7:c.527-5294A>G | ENSP00000401133.3:n.527-5294A>G | |
| ENST00000537194.6:c.74-5294A>G | ENSP00000445348.2:n.74-5294A>G | |
| ENST00000540846.6:c.344-5294A>G | ENSP00000437757.2:n.344-5294A>G | |
| ENST00000558428.5:c.74-5294A>G | ENSP00000454165.1:n.74-5294A>G | |
| ENST00000558827.1:c.74-5294A>G | ENSP00000452767.1:n.74-5294A>G | |
| ENST00000558894.5:c.344-5294A>G | ENSP00000458060.1:n.344-5294A>G | |
| ENST00000560402.1:n.282+1363A>G | ||
| NM_001145102.1:c.344-5294A>G | NP_001138574.1:n.344-5294A>G | |
| NM_001145103.1:c.527-5294A>G | NP_001138575.1:n.527-5294A>G | |
| NM_001145104.1:c.74-5294A>G | NP_001138576.1:n.74-5294A>G | |
| NM_005902.3:c.659-5294A>G | NP_005893.1:n.659-5294A>G | |
| XM_011521559.1:c.527-5294A>G | XP_011519861.1:n.527-5294A>G | |
| XM_011521560.1:c.512-5294A>G | XP_011519862.1:n.512-5294A>G | |
| XM_011521559.3:c.527-5294A>G | XP_011519861.1:n.527-5294A>G | |
| NM_005902.4:c.659-5294A>G MANE Select | NP_005893.1:n.659-5294A>G | |
| NM_001145102.2:c.344-5294A>G | NP_001138574.1:n.344-5294A>G | |
| NM_001145103.2:c.527-5294A>G | NP_001138575.1:n.527-5294A>G | |
| NM_001145104.2:c.74-5294A>G | NP_001138576.1:n.74-5294A>G |