Linked Data
dbSNP Id:
rs748974117
ExAC:
2:116510733 T / G
gnomAD v2:
2-116510733-T-G
gnomAD v4:
2-115753157-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.115753157T>G , CM000664.2:g.115753157T>G | GRCh38 |
| NC_000002.11:g.116510733T>G , CM000664.1:g.116510733T>G | GRCh37 |
| NC_000002.10:g.116227203T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000410059.6:c.951-17T>G MANE Select | ENSP00000386565.1:n.951-17T>G | |
| ENST00000310323.12:c.930-17T>G | ENSP00000309066.8:n.930-17T>G | |
| ENST00000393147.6:c.963-17T>G | ENSP00000376855.2:n.963-17T>G | |
| ENST00000409163.5:c.801-17T>G | ENSP00000387038.1:n.801-17T>G | |
| ENST00000410059.5:c.951-17T>G | ENSP00000386565.1:n.951-17T>G | |
| NM_001004360.3:c.930-17T>G | NP_001004360.2:n.930-17T>G | |
| NM_001178034.1:c.963-17T>G | NP_001171505.1:n.963-17T>G | |
| NM_001178036.1:c.801-17T>G | NP_001171507.1:n.801-17T>G | |
| NM_001178037.1:c.939-17T>G | NP_001171508.1:n.939-17T>G | |
| NM_020868.3:c.951-17T>G | NP_065919.2:n.951-17T>G | |
| XM_011511526.1:c.930-17T>G | XP_011509828.1:n.930-17T>G | |
| XM_011511527.1:c.801-17T>G | XP_011509829.1:n.801-17T>G | |
| XM_011511528.1:c.699-17T>G | XP_011509830.1:n.699-17T>G | |
| XR_923234.1:n.67+1578A>C | ||
| NM_001321905.1:c.1002-17T>G | NP_001308834.1:n.1002-17T>G | |
| NM_001321906.1:c.930-17T>G | NP_001308835.1:n.930-17T>G | |
| NM_001321907.1:c.951-17T>G | NP_001308836.1:n.951-17T>G | |
| NM_001321908.1:c.861-17T>G | NP_001308837.1:n.861-17T>G | |
| NM_001321909.1:c.834-17T>G | NP_001308838.1:n.834-17T>G | |
| NM_001321910.1:c.801-17T>G | NP_001308839.1:n.801-17T>G | |
| NM_001321911.1:c.801-17T>G | NP_001308840.1:n.801-17T>G | |
| NM_001321912.1:c.801-17T>G | NP_001308841.1:n.801-17T>G | |
| NM_001321913.1:c.189-17T>G | NP_001308842.1:n.189-17T>G | |
| NM_001321914.1:c.189-17T>G | NP_001308843.1:n.189-17T>G | |
| NM_020868.4:c.951-17T>G | NP_065919.2:n.951-17T>G | |
| XM_017004566.1:c.828-17T>G | XP_016860055.1:n.828-17T>G | |
| XM_024453023.1:c.930-17T>G | XP_024308791.1:n.930-17T>G | |
| XR_923234.2:n.67+1578A>C | ||
| NM_001004360.4:c.930-17T>G | NP_001004360.3:n.930-17T>G | |
| NM_001178036.2:c.801-17T>G | NP_001171507.2:n.801-17T>G | |
| NM_001178037.2:c.939-17T>G | NP_001171508.2:n.939-17T>G | |
| NM_001321905.2:c.1002-17T>G | NP_001308834.2:n.1002-17T>G | |
| NM_001321907.2:c.951-17T>G | NP_001308836.2:n.951-17T>G | |
| NM_001321908.2:c.861-17T>G | NP_001308837.2:n.861-17T>G | |
| NM_001321909.2:c.834-17T>G | NP_001308838.2:n.834-17T>G | |
| NM_001321910.2:c.801-17T>G | NP_001308839.2:n.801-17T>G | |
| NM_001321911.2:c.801-17T>G | NP_001308840.2:n.801-17T>G | |
| NM_001321912.2:c.801-17T>G | NP_001308841.2:n.801-17T>G | |
| NM_001321913.2:c.189-17T>G | NP_001308842.2:n.189-17T>G | |
| NM_020868.6:c.951-17T>G MANE Select | NP_065919.3:n.951-17T>G | |
| NM_001004360.5:c.930-17T>G | NP_001004360.3:n.930-17T>G | |
| NM_001178036.3:c.801-17T>G | NP_001171507.2:n.801-17T>G | |
| NM_001178037.3:c.939-17T>G | NP_001171508.2:n.939-17T>G | |
| NM_001321905.3:c.1002-17T>G | NP_001308834.2:n.1002-17T>G | |
| NM_001321906.2:c.930-17T>G | NP_001308835.2:n.930-17T>G | |
| NM_001321907.3:c.951-17T>G | NP_001308836.2:n.951-17T>G | |
| NM_001321908.3:c.861-17T>G | NP_001308837.2:n.861-17T>G | |
| NM_001321909.3:c.834-17T>G | NP_001308838.2:n.834-17T>G | |
| NM_001321910.3:c.801-17T>G | NP_001308839.2:n.801-17T>G | |
| NM_001321911.3:c.801-17T>G | NP_001308840.2:n.801-17T>G | |
| NM_001321912.3:c.801-17T>G | NP_001308841.2:n.801-17T>G | |
| NM_001321913.3:c.189-17T>G | NP_001308842.2:n.189-17T>G | |
| NM_001321914.2:c.189-17T>G | NP_001308843.2:n.189-17T>G | |
| NM_001399849.1:c.801-17T>G | NP_001386778.1:n.801-17T>G | |
| NM_001399850.1:c.189-17T>G | NP_001386779.1:n.189-17T>G | |
| NM_001399851.1:c.699-17T>G | NP_001386780.1:n.699-17T>G |