Linked Data
gnomAD v4:
2-223053639-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053639G>C , CM000664.2:g.223053639G>C | GRCh38 |
| NC_000002.11:g.223918357G>C , CM000664.1:g.223918357G>C | GRCh37 |
| NC_000002.10:g.223626601G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*296G>C MANE Select | ENSP00000281830.5:n.*296G>C | |
| ENST00000281830.3:c.*296G>C | ENSP00000281830.4:n.*296G>C | |
| ENST00000488477.2:n.75+1365G>C | ||
| NM_080671.3:c.*296G>C | NP_542402.3:n.*296G>C | |
| NM_080671.4:c.*296G>C MANE Select | NP_542402.4:n.*296G>C |