Linked Data
dbSNP Id:
rs747856377
ExAC:
17:18049436 A / T
gnomAD v2:
17-18049436-A-T
gnomAD v3:
17-18146122-A-T
gnomAD v4:
17-18146122-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146122A>T , CM000679.2:g.18146122A>T | GRCh38 |
| NC_000017.10:g.18049436A>T , CM000679.1:g.18049436A>T | GRCh37 |
| NC_000017.9:g.17990161A>T | NCBI36 |
| NG_011634.1:g.42417A>T | |
| NG_011634.2:g.42417A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6509+15A>T MANE Select | ENSP00000495481.1:n.6509+15A>T | |
| ENST00000205890.9:c.6509+15A>T | ENSP00000205890.5:n.6509+15A>T | |
| ENST00000578999.1:n.94+15A>T | ||
| ENST00000615845.4:c.6509+15A>T | ENSP00000481642.1:n.6509+15A>T | |
| NM_016239.3:c.6509+15A>T | NP_057323.3:n.6509+15A>T | |
| XM_011523917.1:c.6449+15A>T | XP_011522219.1:n.6449+15A>T | |
| XM_011523918.1:c.6342+122A>T | XP_011522220.1:n.6342+122A>T | |
| XM_011523921.1:c.6503+15A>T | XP_011522223.1:n.6503+15A>T | |
| XR_934037.1:n.7108+15A>T | ||
| XR_934038.1:n.7108+15A>T | ||
| XM_011523918.2:c.6342+122A>T | XP_011522220.1:n.6342+122A>T | |
| XM_017024714.2:c.6449+15A>T | XP_016880203.1:n.6449+15A>T | |
| XM_017024715.2:c.6512+15A>T | XP_016880204.1:n.6512+15A>T | |
| XM_024450781.1:c.6213+1530A>T | XP_024306549.1:n.6213+1530A>T | |
| NM_016239.4:c.6509+15A>T MANE Select | NP_057323.3:n.6509+15A>T |