Linked Data
dbSNP Id:
rs776669979
gnomAD v2:
6-24306445-C-T
gnomAD v3:
6-24306217-C-T
gnomAD v4:
6-24306217-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24306217C>T , CM000668.2:g.24306217C>T | GRCh38 |
| NC_000006.11:g.24306445C>T , CM000668.1:g.24306445C>T | GRCh37 |
| NC_000006.10:g.24414424C>T | NCBI36 |
| NG_012829.1:g.56836G>A | |
| NG_012829.2:g.82076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.349-4173G>A MANE Select | ENSP00000367715.3:n.349-4173G>A | |
| ENST00000378454.7:c.349-4173G>A | ENSP00000367715.3:n.349-4173G>A | |
| NM_001195610.1:c.349-4173G>A | NP_001182539.1:n.349-4173G>A | |
| NM_016356.4:c.349-4173G>A | NP_057440.2:n.349-4173G>A | |
| NM_016356.5:c.349-4173G>A MANE Select | NP_057440.2:n.349-4173G>A | |
| NM_001195610.2:c.349-4173G>A | NP_001182539.1:n.349-4173G>A |