Linked Data
dbSNP Id:
rs900496946
gnomAD v2:
17-57008074-C-T
gnomAD v3:
17-58930713-C-T
gnomAD v4:
17-58930713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58930713C>T , CM000679.2:g.58930713C>T | GRCh38 |
| NC_000017.10:g.57008074C>T , CM000679.1:g.57008074C>T | GRCh37 |
| NC_000017.9:g.54362856C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308249.4:c.465-24936C>T MANE Select | ENSP00000312411.2:n.465-24936C>T | |
| ENST00000308249.3:c.465-24936C>T | ENSP00000312411.2:n.465-24936C>T | |
| NM_014906.4:c.465-24936C>T | NP_055721.3:n.465-24936C>T | |
| NR_048561.1:n.594-24936C>T | ||
| XM_011524534.1:c.-47-24936C>T | XP_011522836.1:n.-47-24936C>T | |
| XM_024450657.1:c.-253-24936C>T | XP_024306425.1:n.-253-24936C>T | |
| NM_014906.5:c.465-24936C>T MANE Select | NP_055721.3:n.465-24936C>T |