Linked Data
gnomAD v4:
14-74493477-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493477C>G , CM000676.2:g.74493477C>G | GRCh38 |
| NC_000014.8:g.74960180C>G , CM000676.1:g.74960180C>G | GRCh37 |
| NC_000014.7:g.74029933C>G | NCBI36 |
| NG_007117.1:g.4905G>C | |
| NG_033074.1:g.4758C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+93G>C | ENSP00000450887.1:n.-64+93G>C | |
| ENST00000555619.5:c.-203G>C | ENSP00000451112.1:n.-203G>C | |
| ENST00000556009.5:c.147+554G>C | ||
| NM_001363688.1:c.-203G>C | NP_001350617.1:n.-203G>C | |
| NM_006432.4:c.-203G>C | NP_006423.1:n.-203G>C |