Linked Data
dbSNP Id:
rs1172334915
gnomAD v2:
17-57008052-T-C
gnomAD v3:
17-58930691-T-C
gnomAD v4:
17-58930691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58930691T>C , CM000679.2:g.58930691T>C | GRCh38 |
| NC_000017.10:g.57008052T>C , CM000679.1:g.57008052T>C | GRCh37 |
| NC_000017.9:g.54362834T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308249.4:c.465-24958T>C MANE Select | ENSP00000312411.2:n.465-24958T>C | |
| ENST00000308249.3:c.465-24958T>C | ENSP00000312411.2:n.465-24958T>C | |
| NM_014906.4:c.465-24958T>C | NP_055721.3:n.465-24958T>C | |
| NR_048561.1:n.594-24958T>C | ||
| XM_011524534.1:c.-47-24958T>C | XP_011522836.1:n.-47-24958T>C | |
| XM_024450657.1:c.-253-24958T>C | XP_024306425.1:n.-253-24958T>C | |
| NM_014906.5:c.465-24958T>C MANE Select | NP_055721.3:n.465-24958T>C |