Linked Data
dbSNP Id:
rs751010437
ExAC:
17:40690641 T / C
gnomAD v2:
17-40690641-T-C
gnomAD v3:
17-42538623-T-C
gnomAD v4:
17-42538623-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538623T>C , CM000679.2:g.42538623T>C | GRCh38 |
| NC_000017.10:g.40690641T>C , CM000679.1:g.40690641T>C | GRCh37 |
| NC_000017.9:g.37944167T>C | NCBI36 |
| NG_011552.1:g.7691T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.679-47T>C MANE Select | ENSP00000225927.1:n.679-47T>C | |
| ENST00000225927.6:c.679-47T>C | ENSP00000225927.1:n.679-47T>C | |
| ENST00000586516.5:c.281-47T>C | ||
| ENST00000591587.1:c.274-47T>C | ENSP00000467836.1:n.274-47T>C | |
| NM_000263.3:c.679-47T>C | NP_000254.2:n.679-47T>C | |
| XM_006721920.2:c.-64-47T>C | XP_006721983.1:n.-64-47T>C | |
| XM_011524840.1:c.-64-47T>C | XP_011523142.1:n.-64-47T>C | |
| XM_017024687.1:c.-64-47T>C | XP_016880176.1:n.-64-47T>C | |
| XM_024450771.1:c.736-47T>C | XP_024306539.1:n.736-47T>C | |
| XM_024450772.1:c.-64-47T>C | XP_024306540.1:n.-64-47T>C | |
| NM_000263.4:c.679-47T>C MANE Select | NP_000254.2:n.679-47T>C |