Linked Data
dbSNP Id:
rs750165101
ExAC:
17:61564447 G / A
gnomAD v2:
17-61564447-G-A
gnomAD v4:
17-63487086-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487086G>A , CM000679.2:g.63487086G>A | GRCh38 |
| NC_000017.10:g.61564447G>A , CM000679.1:g.61564447G>A | GRCh37 |
| NC_000017.9:g.58918179G>A | NCBI36 |
| NG_011648.1:g.15014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2305+13G>A MANE Select | ENSP00000290866.4:n.2305+13G>A | |
| ENST00000290863.10:c.583+13G>A | ENSP00000290863.6:n.583+13G>A | |
| ENST00000290866.9:c.2305+13G>A | ENSP00000290866.4:n.2305+13G>A | |
| ENST00000413513.7:c.583+13G>A | ENSP00000392247.3:n.583+13G>A | |
| ENST00000428043.5:c.2305+13G>A | ENSP00000397593.2:n.2305+13G>A | |
| ENST00000577647.2:c.583+13G>A | ENSP00000464149.1:n.583+13G>A | |
| ENST00000578839.5:c.*375+13G>A | ENSP00000462110.2:n.*375+13G>A | |
| ENST00000579204.1:c.486+13G>A | ENSP00000464629.1:n.486+13G>A | |
| ENST00000579314.5:c.583+13G>A | ENSP00000462599.1:n.583+13G>A | |
| ENST00000582005.5:c.*225+13G>A | ENSP00000462002.1:n.*225+13G>A | |
| ENST00000582761.1:c.73+13G>A | ENSP00000462909.1:n.73+13G>A | |
| ENST00000584865.5:n.251+13G>A | ||
| NM_000789.3:c.2305+13G>A | NP_000780.1:n.2305+13G>A | |
| NM_001178057.1:c.583+13G>A | NP_001171528.1:n.583+13G>A | |
| NM_152830.2:c.583+13G>A | NP_690043.1:n.583+13G>A | |
| XM_005257110.1:c.1756+13G>A | XP_005257167.1:n.1756+13G>A | |
| XM_006721737.2:c.643+13G>A | XP_006721800.2:n.643+13G>A | |
| XM_006721737.3:c.643+13G>A | XP_006721800.2:n.643+13G>A | |
| NM_000789.4:c.2305+13G>A MANE Select | NP_000780.1:n.2305+13G>A | |
| NM_001178057.2:c.583+13G>A | NP_001171528.1:n.583+13G>A | |
| NM_152830.3:c.583+13G>A | NP_690043.1:n.583+13G>A | |
| NM_001382700.1:c.1738+13G>A | NP_001369629.1:n.1738+13G>A | |
| NM_001382701.1:c.1453+13G>A | NP_001369630.1:n.1453+13G>A | |
| NM_001382702.1:c.235+13G>A | NP_001369631.1:n.235+13G>A | |
| NR_168483.1:n.605+13G>A |