Linked Data
gnomAD v4:
10-80273661-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273661A>G , CM000672.2:g.80273661A>G | GRCh38 |
| NC_000010.10:g.82033417A>G , CM000672.1:g.82033417A>G | GRCh37 |
| NC_000010.9:g.82023397A>G | NCBI36 |
| NG_008083.1:g.21018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*120T>C MANE Select | ENSP00000361287.3:n.*120T>C | |
| ENST00000372213.7:c.*120T>C | ENSP00000361287.3:n.*120T>C | |
| ENST00000480845.1:n.540T>C | ||
| ENST00000485270.5:n.820T>C | ||
| NM_000429.2:c.*120T>C | NP_000420.1:n.*120T>C | |
| XM_005269842.3:c.*120T>C | XP_005269899.1:n.*120T>C | |
| XM_005269843.3:c.*120T>C | XP_005269900.1:n.*120T>C | |
| NM_000429.3:c.*120T>C MANE Select | NP_000420.1:n.*120T>C |