Linked Data
dbSNP Id:
rs111787668
gnomAD v2:
6-112194433-C-A
gnomAD v3:
6-111873230-C-A
gnomAD v4:
6-111873230-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.111873230C>A , CM000668.2:g.111873230C>A | GRCh38 |
| NC_000006.11:g.112194433C>A , CM000668.1:g.112194433C>A | GRCh37 |
| NC_000006.10:g.112301126C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368682.8:c.-385G>T | ENSP00000357671.3:n.-385G>T | |
| ENST00000354650.7:c.-385G>T MANE Select | ENSP00000346671.3:n.-385G>T | |
| ENST00000368678.8:c.-315G>T | ENSP00000357667.4:n.-315G>T | |
| ENST00000484067.6:c.-360-25G>T | ENSP00000428983.1:n.-360-25G>T | |
| ENST00000518295.5:c.-502G>T | ENSP00000428695.1:n.-502G>T | |
| ENST00000523238.5:c.-344G>T | ENSP00000430364.1:n.-344G>T | |
| NM_002037.5:c.-385G>T MANE Select | NP_002028.1:n.-385G>T | |
| XM_005266890.2:c.-385G>T | XP_005266947.1:n.-385G>T | |
| XM_005266892.2:c.-385G>T | XP_005266949.1:n.-385G>T | |
| XM_011535662.1:c.-385G>T | XP_011533964.1:n.-385G>T | |
| XM_011535663.1:c.-344G>T | XP_011533965.1:n.-344G>T | |
| XM_011536304.1:c.499C>A | XP_011534606.1:p.Arg167Ser | |
| XM_024446614.1:c.499C>A | XP_024302382.1:p.Arg167Ser |