Linked Data
dbSNP Id:
rs761758179
ExAC:
2:223918105 T / C
gnomAD v2:
2-223918105-T-C
gnomAD v4:
2-223053387-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053387T>C , CM000664.2:g.223053387T>C | GRCh38 |
| NC_000002.11:g.223918105T>C , CM000664.1:g.223918105T>C | GRCh37 |
| NC_000002.10:g.223626349T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.*44T>C MANE Select | ENSP00000281830.5:n.*44T>C | |
| ENST00000281830.3:c.*44T>C | ENSP00000281830.4:n.*44T>C | |
| ENST00000488477.2:n.75+1113T>C | ||
| NM_080671.3:c.*44T>C | NP_542402.3:n.*44T>C | |
| NM_080671.4:c.*44T>C MANE Select | NP_542402.4:n.*44T>C |