Linked Data
dbSNP Id:
rs773606188
ExAC:
17:18047011 C / T
gnomAD v2:
17-18047011-C-T
gnomAD v4:
17-18143697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18143697C>T , CM000679.2:g.18143697C>T | GRCh38 |
| NC_000017.10:g.18047011C>T , CM000679.1:g.18047011C>T | GRCh37 |
| NC_000017.9:g.17987736C>T | NCBI36 |
| NG_011634.1:g.39992C>T | |
| NG_011634.2:g.39992C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.5965-18C>T MANE Select | ENSP00000495481.1:n.5965-18C>T | |
| ENST00000205890.9:c.5965-18C>T | ENSP00000205890.5:n.5965-18C>T | |
| ENST00000615845.4:c.5965-18C>T | ENSP00000481642.1:n.5965-18C>T | |
| NM_016239.3:c.5965-18C>T | NP_057323.3:n.5965-18C>T | |
| XM_011523917.1:c.5905-18C>T | XP_011522219.1:n.5905-18C>T | |
| XM_011523918.1:c.5905-18C>T | XP_011522220.1:n.5905-18C>T | |
| XM_011523919.1:c.5905-18C>T | XP_011522221.1:n.5905-18C>T | |
| XM_011523920.1:c.*149C>T | XP_011522222.1:n.*149C>T | |
| XM_011523921.1:c.5959-18C>T | XP_011522223.1:n.5959-18C>T | |
| XR_934037.1:n.6564-18C>T | ||
| XR_934038.1:n.6564-18C>T | ||
| XR_934039.1:n.6857-18C>T | ||
| XM_011523918.2:c.5905-18C>T | XP_011522220.1:n.5905-18C>T | |
| XM_017024714.2:c.5905-18C>T | XP_016880203.1:n.5905-18C>T | |
| XM_017024715.2:c.5968-18C>T | XP_016880204.1:n.5968-18C>T | |
| XM_024450780.1:c.5905-18C>T | XP_024306548.1:n.5905-18C>T | |
| XM_024450781.1:c.5905-18C>T | XP_024306549.1:n.5905-18C>T | |
| XM_024450782.1:c.*149C>T | XP_024306550.1:n.*149C>T | |
| XR_934039.2:n.6896-18C>T | ||
| NM_016239.4:c.5965-18C>T MANE Select | NP_057323.3:n.5965-18C>T |