Linked Data
dbSNP Id:
rs2028900
gnomAD v2:
2-85767735-C-T
gnomAD v3:
2-85540612-C-T
gnomAD v4:
2-85540612-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85540612C>T , CM000664.2:g.85540612C>T | GRCh38 |
| NC_000002.11:g.85767735C>T , CM000664.1:g.85767735C>T | GRCh37 |
| NC_000002.10:g.85621246C>T | NCBI36 |
| NG_029183.1:g.6635C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306434.8:c.92-471C>T MANE Select | ENSP00000303147.3:n.92-471C>T | |
| ENST00000306434.7:c.92-471C>T | ENSP00000303147.3:n.92-471C>T | |
| ENST00000409017.1:c.-98-471C>T | ENSP00000386353.1:n.-98-471C>T | |
| ENST00000465151.5:n.212-471C>T | ||
| ENST00000469221.5:n.212-471C>T | ||
| ENST00000481412.5:n.70-471C>T | ||
| NM_005911.5:c.92-471C>T | NP_005902.1:n.92-471C>T | |
| NM_005911.6:c.92-471C>T MANE Select | NP_005902.1:n.92-471C>T |