Linked Data
dbSNP Id:
rs776638871
gnomAD v2:
5-127873634-C-T
gnomAD v3:
5-128537941-C-T
gnomAD v4:
5-128537941-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128537941C>T , CM000667.2:g.128537941C>T | GRCh38 |
| NC_000005.9:g.127873634C>T , CM000667.1:g.127873634C>T | GRCh37 |
| NC_000005.8:g.127901533C>T | NCBI36 |
| NG_008750.1:g.5102G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508053.6:c.-338G>A | ENSP00000424571.2:n.-338G>A | |
| ENST00000262464.9:c.-338G>A MANE Select | ENSP00000262464.4:n.-338G>A | |
| ENST00000262464.8:c.-338G>A | ENSP00000262464.4:n.-338G>A | |
| ENST00000502468.5:c.-338G>A | ENSP00000424753.1:n.-338G>A | |
| ENST00000508053.5:c.-338G>A | ENSP00000424571.1:n.-338G>A | |
| ENST00000514742.1:n.283G>A | ||
| ENST00000620257.1:c.-338G>A | ENSP00000479157.1:n.-338G>A | |
| NM_001999.3:c.-338G>A | NP_001990.2:n.-338G>A | |
| NM_001999.4:c.-338G>A MANE Select | NP_001990.2:n.-338G>A |