Linked Data
gnomAD v4:
2-223053652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053652T>C , CM000664.2:g.223053652T>C | GRCh38 |
| NC_000002.11:g.223918370T>C , CM000664.1:g.223918370T>C | GRCh37 |
| NC_000002.10:g.223626614T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*309T>C MANE Select | ENSP00000281830.5:n.*309T>C | |
| ENST00000281830.3:c.*309T>C | ENSP00000281830.4:n.*309T>C | |
| ENST00000488477.2:n.75+1378T>C | ||
| NM_080671.3:c.*309T>C | NP_542402.3:n.*309T>C | |
| NM_080671.4:c.*309T>C MANE Select | NP_542402.4:n.*309T>C |