Linked Data
dbSNP Id:
rs756312081
ExAC:
17:18062702 G / A
gnomAD v2:
17-18062702-G-A
gnomAD v4:
17-18159388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159388G>A , CM000679.2:g.18159388G>A | GRCh38 |
| NC_000017.10:g.18062702G>A , CM000679.1:g.18062702G>A | GRCh37 |
| NC_000017.9:g.18003427G>A | NCBI36 |
| NG_011634.1:g.55683G>A | |
| NG_011634.2:g.55683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1567+41G>A | ||
| ENST00000643693.1:n.1031+41G>A | ||
| ENST00000644795.1:c.1021+41G>A | ENSP00000495720.1:n.1021+41G>A | |
| ENST00000646782.1:n.1963+41G>A | ||
| ENST00000647165.2:c.9229+41G>A MANE Select | ENSP00000495481.1:n.9229+41G>A | |
| ENST00000651214.1:n.1734+41G>A | ||
| ENST00000205890.9:c.9229+41G>A | ENSP00000205890.5:n.9229+41G>A | |
| ENST00000418233.7:c.1021+41G>A | ENSP00000408800.3:n.1021+41G>A | |
| ENST00000433411.7:n.207G>A | ||
| ENST00000445289.6:n.316+1488G>A | ||
| ENST00000556535.5:c.91+41G>A | ENSP00000451782.1:n.91+41G>A | |
| ENST00000557190.5:n.131+41G>A | ||
| ENST00000557655.5:c.91+41G>A | ENSP00000451925.1:n.91+41G>A | |
| ENST00000578472.5:c.91+41G>A | ENSP00000467989.1:n.91+41G>A | |
| ENST00000615845.4:c.9229+41G>A | ENSP00000481642.1:n.9229+41G>A | |
| NM_016239.3:c.9229+41G>A | NP_057323.3:n.9229+41G>A | |
| XM_011523921.1:c.9223+41G>A | XP_011522223.1:n.9223+41G>A | |
| XM_017024714.2:c.9169+41G>A | XP_016880203.1:n.9169+41G>A | |
| XM_017024715.2:c.9232+41G>A | XP_016880204.1:n.9232+41G>A | |
| NM_016239.4:c.9229+41G>A MANE Select | NP_057323.3:n.9229+41G>A |