ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965359G>C , CM000681.2:g.48965359G>C | GRCh38 |
| NC_000019.9:g.49468616G>C , CM000681.1:g.49468616G>C | GRCh37 |
| NC_000019.8:g.54160428G>C | NCBI36 |
| NG_008152.1:g.5051G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-149G>C MANE Select | ENSP00000366525.2:n.-149G>C | |
| ENST00000331825.10:c.-149G>C | ENSP00000366525.2:n.-149G>C | |
| ENST00000622577.2:c.-149G>C | ENSP00000484043.1:n.-149G>C | |
| NM_000146.3:c.-149G>C | NP_000137.2:n.-149G>C | |
| XM_024451447.1:c.362G>C | XP_024307215.1:p.Arg121Pro | |
| NM_000146.4:c.-149G>C MANE Select | NP_000137.2:n.-149G>C |