Linked Data
gnomAD v4:
14-60645570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60645570G>T , CM000676.2:g.60645570G>T | GRCh38 |
| NC_000014.8:g.61112288G>T , CM000676.1:g.61112288G>T | GRCh37 |
| NC_000014.7:g.60182041G>T | NCBI36 |
| NG_008231.1:g.8868C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*713C>A MANE Select | ENSP00000494686.1:n.*713C>A | |
| ENST00000247182.6:c.*713C>A | ENSP00000247182.5:n.*713C>A | |
| ENST00000553535.2:n.1256C>A | ||
| ENST00000554986.2:c.*713C>A | ENSP00000452700.2:n.*713C>A | |
| ENST00000555955.3:n.2205C>A | ||
| NM_005982.3:c.*713C>A | NP_005973.1:n.*713C>A | |
| XM_017021602.2:c.*987C>A | XP_016877091.1:n.*987C>A | |
| NM_005982.4:c.*713C>A MANE Select | NP_005973.1:n.*713C>A |