Linked Data
dbSNP Id:
rs371020749
ExAC:
17:18052769 G / T
gnomAD v2:
17-18052769-G-T
gnomAD v4:
17-18149455-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18149455G>T , CM000679.2:g.18149455G>T | GRCh38 |
| NC_000017.10:g.18052769G>T , CM000679.1:g.18052769G>T | GRCh37 |
| NC_000017.9:g.17993494G>T | NCBI36 |
| NG_011634.1:g.45750G>T | |
| NG_011634.2:g.45750G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.7118-31G>T MANE Select | ENSP00000495481.1:n.7118-31G>T | |
| ENST00000205890.9:c.7118-31G>T | ENSP00000205890.5:n.7118-31G>T | |
| ENST00000578999.1:n.708G>T | ||
| ENST00000615845.4:c.7118-31G>T | ENSP00000481642.1:n.7118-31G>T | |
| NM_016239.3:c.7118-31G>T | NP_057323.3:n.7118-31G>T | |
| XM_011523917.1:c.6793-31G>T | XP_011522219.1:n.6793-31G>T | |
| XM_011523921.1:c.7112-31G>T | XP_011522223.1:n.7112-31G>T | |
| XR_934037.1:n.7452-31G>T | ||
| XR_934038.1:n.7404-31G>T | ||
| XR_934293.1:n.435-1849C>A | ||
| XR_934295.1:n.254-1849C>A | ||
| XM_017024714.2:c.7058-31G>T | XP_016880203.1:n.7058-31G>T | |
| XM_017024715.2:c.7121-31G>T | XP_016880204.1:n.7121-31G>T | |
| XR_934293.2:n.378-1849C>A | ||
| NM_016239.4:c.7118-31G>T MANE Select | NP_057323.3:n.7118-31G>T |