Linked Data
ClinVar Variation Id:
385796
ClinVar RCV Id:
RCV000440149
dbSNP Id:
rs988301282
gnomAD v2:
2-150444180-G-C
gnomAD v3:
2-149587666-G-C
gnomAD v4:
2-149587666-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149587666G>C , CM000664.2:g.149587666G>C | GRCh38 |
| NC_000002.11:g.150444180G>C , CM000664.1:g.150444180G>C | GRCh37 |
| NC_000002.10:g.150152426G>C | NCBI36 |
| NG_009189.1:g.5151C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.-55C>G (MMADHC) MANE Select | ENSP00000301920.5:n.-55C>G | |
| ENST00000303319.9:c.-55C>G (MMADHC) | ENSP00000301920.5:n.-55C>G | |
| ENST00000422782.2:c.-55C>G (MMADHC) | ENSP00000408331.2:n.-55C>G | |
| ENST00000460311.1:n.61C>G (MMADHC) | ||
| NM_015702.2:c.-55C>G (MMADHC) | NP_056517.1:n.-55C>G | |
| NR_110240.1:n.309G>C (MMADHC-DT) | ||
| NM_015702.3:c.-55C>G (MMADHC) MANE Select | NP_056517.1:n.-55C>G |