gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142682272G>C , CM000670.2:g.142682272G>C | GRCh38 |
| NC_000008.10:g.143763690G>C , CM000670.1:g.143763690G>C | GRCh37 |
| NC_000008.9:g.143760692G>C | NCBI36 |
| NG_011722.2:g.6816G>C | |
| NG_011722.3:g.16965G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301258.5:c.*140G>C MANE Select | ENSP00000301258.4:n.*140G>C | |
| ENST00000301258.4:c.*140G>C | ENSP00000301258.4:n.*140G>C | |
| ENST00000510969.1:n.708G>C | ||
| NM_005672.4:c.*140G>C | NP_005663.2:n.*140G>C | |
| NR_033343.1:n.721G>C | ||
| NM_005672.5:c.*140G>C MANE Select | NP_005663.2:n.*140G>C | |
| NR_033343.2:n.732G>C |