Linked Data
gnomAD v4:
12-69353476-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353476A>C , CM000674.2:g.69353476A>C | GRCh38 |
| NC_000012.11:g.69747256A>C , CM000674.1:g.69747256A>C | GRCh37 |
| NC_000012.10:g.68033523A>C | NCBI36 |
| NG_008195.1:g.10123A>C , LRG_768:g.10123A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*257A>C MANE Select | ENSP00000261267.2:n.*257A>C | |
| ENST00000261267.6:c.*257A>C | ENSP00000261267.2:n.*257A>C | |
| ENST00000549690.1:c.*211A>C | ENSP00000449898.1:n.*211A>C | |
| NM_000239.2:c.*257A>C , LRG_768t1:c.*257A>C | NP_000230.1:n.*257A>C | |
| NM_000239.3:c.*257A>C MANE Select | NP_000230.1:n.*257A>C |