Linked Data
dbSNP Id:
rs809736
gnomAD v2:
15-61329788-A-G
gnomAD v3:
15-61037589-A-G
gnomAD v4:
15-61037589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61037589A>G , CM000677.2:g.61037589A>G | GRCh38 |
| NC_000015.9:g.61329788A>G , CM000677.1:g.61329788A>G | GRCh37 |
| NC_000015.8:g.59117080A>G | NCBI36 |
| NG_029246.1:g.196715T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.166+191464T>C MANE Select | ENSP00000335087.6:n.166+191464T>C | |
| ENST00000335670.10:c.166+191464T>C | ENSP00000335087.6:n.166+191464T>C | |
| ENST00000551975.5:c.81+191464T>C | ||
| ENST00000557822.5:n.191+191464T>C | ||
| ENST00000559145.1:n.173+191464T>C | ||
| ENST00000561093.1:n.179+191464T>C | ||
| NM_134261.2:c.166+191464T>C | NP_599023.1:n.166+191464T>C | |
| XM_011521878.1:c.-328+191464T>C | XP_011520180.1:n.-328+191464T>C | |
| XM_011521878.2:c.-328+191464T>C | XP_011520180.1:n.-328+191464T>C | |
| XR_001751773.2:n.2536T>C | ||
| XR_001751776.2:n.1088+1448T>C | ||
| XR_001751777.2:n.967-2663T>C | ||
| XR_002957755.1:n.7561T>C | ||
| XR_002957756.1:n.4512T>C | ||
| XR_002957757.1:n.7561T>C | ||
| XR_002957758.1:n.7561T>C | ||
| XR_002957759.1:n.7561T>C | ||
| XR_002957760.1:n.11158T>C | ||
| XR_002957761.1:n.7561T>C | ||
| NM_134261.3:c.166+191464T>C MANE Select | NP_599023.1:n.166+191464T>C |