Linked Data
dbSNP Id:
rs4845384
gnomAD v2:
1-154587669-A-G
gnomAD v3:
1-154615193-A-G
gnomAD v4:
1-154615193-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154615193A>G , CM000663.2:g.154615193A>G | GRCh38 |
| NC_000001.10:g.154587669A>G , CM000663.1:g.154587669A>G | GRCh37 |
| NC_000001.9:g.152854293A>G | NCBI36 |
| NG_011844.1:g.17769T>C | |
| NG_011844.2:g.21368T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649042.2:c.46-12567T>C | ENSP00000497790.2:n.46-12567T>C | |
| ENST00000649724.2:c.46-12567T>C | ENSP00000497932.2:n.46-12567T>C | |
| ENST00000680270.2:c.46-12567T>C | ENSP00000505532.2:n.46-12567T>C | |
| ENST00000681056.2:c.45+12761T>C | ENSP00000506234.2:n.45+12761T>C | |
| ENST00000368471.8:c.-870-12567T>C | ENSP00000357456.3:n.-870-12567T>C | |
| ENST00000471068.2:n.148+12243T>C | ||
| ENST00000648311.1:c.-871+12243T>C | ENSP00000498137.1:n.-871+12243T>C | |
| ENST00000649021.1:n.52-12567T>C | ||
| ENST00000649022.2:c.-871+9870T>C | ENSP00000496896.2:n.-871+9870T>C | |
| ENST00000649042.1:c.-734-12567T>C | ENSP00000497790.1:n.-734-12567T>C | |
| ENST00000649724.1:c.-870-12567T>C | ENSP00000497932.1:n.-870-12567T>C | |
| ENST00000679375.1:c.-493+12662T>C | ENSP00000505887.1:n.-493+12662T>C | |
| ENST00000679805.1:n.52-12567T>C | ||
| ENST00000679899.1:c.-870-12567T>C | ENSP00000505996.1:n.-870-12567T>C | |
| ENST00000680270.1:c.-723-12567T>C | ENSP00000505532.1:n.-723-12567T>C | |
| ENST00000680472.1:n.55-12567T>C | ||
| ENST00000681056.1:c.-493+12761T>C | ENSP00000506234.1:n.-493+12761T>C | |
| ENST00000681683.1:c.-734-12567T>C | ENSP00000506666.1:n.-734-12567T>C | |
| ENST00000368471.7:c.-870-12567T>C | ENSP00000357456.3:n.-870-12567T>C | |
| ENST00000463920.5:n.34-12567T>C | ||
| ENST00000471068.1:n.47-12567T>C | ||
| ENST00000494866.1:n.59-12567T>C | ||
| NM_001025107.2:c.-870-12567T>C | NP_001020278.1:n.-870-12567T>C | |
| XM_006711109.1:c.46-12567T>C | XP_006711172.1:n.46-12567T>C | |
| XM_006711112.1:c.-734-12567T>C | XP_006711175.1:n.-734-12567T>C | |
| XM_006711113.1:c.-734-12567T>C | XP_006711176.1:n.-734-12567T>C | |
| XM_011509060.1:c.145-12567T>C | XP_011507362.1:n.145-12567T>C | |
| XM_011509061.1:c.145-12567T>C | XP_011507363.1:n.145-12567T>C | |
| XM_011509062.1:c.33+9870T>C | XP_011507364.1:n.33+9870T>C | |
| NM_001025107.3:c.-870-12567T>C | NP_001020278.1:n.-870-12567T>C | |
| NM_001365045.1:c.43-12567T>C | NP_001351974.1:n.43-12567T>C | |
| NM_001365046.1:c.-734-12567T>C | NP_001351975.1:n.-734-12567T>C | |
| XM_006711113.2:c.-734-12567T>C | XP_006711176.1:n.-734-12567T>C | |
| XM_011509061.2:c.-870-12567T>C | XP_011507363.2:n.-870-12567T>C | |
| XM_024449674.1:c.145-12567T>C | XP_024305442.1:n.145-12567T>C |