Linked Data
dbSNP Id:
rs142428478
gnomAD v3:
17-49974270-A-C
gnomAD v4:
17-49974270-A-C
MyVariant Identifiers:
chr17:g.49974270A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49974270A>C , CM000679.2:g.49974270A>C | GRCh38 |
| NC_000017.10:g.48051634A>C , CM000679.1:g.48051634A>C | GRCh37 |
| NC_000017.9:g.45406633A>C | NCBI36 |
| NG_030592.1:g.10073A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1931A>C | ||
| ENST00000240306.5:c.*327A>C MANE Select | ENSP00000240306.3:n.*327A>C | |
| ENST00000240306.4:c.*327A>C | ENSP00000240306.3:n.*327A>C | |
| ENST00000411890.3:c.*327A>C | ENSP00000410622.2:n.*327A>C | |
| ENST00000611342.1:c.*920A>C | ENSP00000480366.1:n.*920A>C | |
| NM_001934.3:c.*327A>C | NP_001925.2:n.*327A>C | |
| NM_138281.2:c.*327A>C | NP_612138.1:n.*327A>C | |
| XM_011524459.1:c.*327A>C | XP_011522761.1:n.*327A>C | |
| XM_017024291.1:c.*327A>C | XP_016879780.1:n.*327A>C | |
| NM_138281.3:c.*327A>C MANE Select | NP_612138.1:n.*327A>C | |
| NM_001934.4:c.*327A>C | NP_001925.2:n.*327A>C |