Linked Data
gnomAD v4:
12-69353385-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353385G>T , CM000674.2:g.69353385G>T | GRCh38 |
| NC_000012.11:g.69747165G>T , CM000674.1:g.69747165G>T | GRCh37 |
| NC_000012.10:g.68033432G>T | NCBI36 |
| NG_008195.1:g.10032G>T , LRG_768:g.10032G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*166G>T MANE Select | ENSP00000261267.2:n.*166G>T | |
| ENST00000261267.6:c.*166G>T | ENSP00000261267.2:n.*166G>T | |
| ENST00000549690.1:c.*120G>T | ENSP00000449898.1:n.*120G>T | |
| NM_000239.2:c.*166G>T , LRG_768t1:c.*166G>T | NP_000230.1:n.*166G>T | |
| NM_000239.3:c.*166G>T MANE Select | NP_000230.1:n.*166G>T |