Linked Data
dbSNP Id:
rs1228191820
gnomAD v2:
14-103389017-C-T
gnomAD v3:
14-102922680-C-T
gnomAD v4:
14-102922680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922680C>T , CM000676.2:g.102922680C>T | GRCh38 |
| NC_000014.8:g.103389017C>T , CM000676.1:g.103389017C>T | GRCh37 |
| NC_000014.7:g.102458770C>T | NCBI36 |
| NG_008276.2:g.5025C>T , LRG_642:g.5025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-9C>T MANE Select | ENSP00000299155.6:n.-9C>T | |
| ENST00000299155.9:c.-9C>T | ENSP00000299155.5:n.-9C>T | |
| NM_030943.3:c.-9C>T , LRG_642t1:c.-9C>T | NP_112205.2:n.-9C>T | |
| XM_011537202.1:c.-190C>T | XP_011535504.1:n.-190C>T | |
| XM_011537202.3:c.-190C>T | XP_011535504.1:n.-190C>T | |
| XM_024449714.1:c.88C>T | XP_024305482.1:p.Arg30Ter | |
| NM_030943.4:c.-9C>T MANE Select | NP_112205.2:n.-9C>T |