Linked Data
dbSNP Id:
rs769684129
gnomAD v2:
2-208988835-C-T
gnomAD v3:
2-208124111-C-T
gnomAD v4:
2-208124111-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124111C>T , CM000664.2:g.208124111C>T | GRCh38 |
| NC_000002.11:g.208988835C>T , CM000664.1:g.208988835C>T | GRCh37 |
| NC_000002.10:g.208697080C>T | NCBI36 |
| NG_008039.1:g.5479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.252+1G>A MANE Select | ENSP00000264376.4:n.252+1G>A | |
| ENST00000264376.4:c.252+1G>A | ENSP00000264376.4:n.252+1G>A | |
| NM_006891.3:c.252+1G>A | NP_008822.2:n.252+1G>A | |
| NR_038437.1:n.97+4886C>T | ||
| NM_006891.4:c.252+1G>A MANE Select | NP_008822.2:n.252+1G>A |