Linked Data
dbSNP Id:
rs748336892
gnomAD v2:
3-81695455-C-T
gnomAD v3:
3-81646304-C-T
gnomAD v4:
3-81646304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81646304C>T , CM000665.2:g.81646304C>T | GRCh38 |
| NC_000003.11:g.81695455C>T , CM000665.1:g.81695455C>T | GRCh37 |
| NC_000003.10:g.81778145C>T | NCBI36 |
| NG_011810.1:g.120497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.782+88G>A MANE Select | ENSP00000410833.2:n.782+88G>A | |
| ENST00000429644.6:c.782+88G>A | ENSP00000410833.2:n.782+88G>A | |
| ENST00000489715.1:c.659+88G>A | ENSP00000419638.1:n.659+88G>A | |
| ENST00000498468.1:n.332+88G>A | ||
| NM_000158.3:c.782+88G>A | NP_000149.3:n.782+88G>A | |
| NM_000158.4:c.782+88G>A MANE Select | NP_000149.4:n.782+88G>A |