Linked Data
ClinVar Variation Id:
456684
dbSNP Id:
rs1379627026
gnomAD v3:
19-33302375-G-C
gnomAD v4:
19-33302375-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302375G>C , CM000681.2:g.33302375G>C | GRCh38 |
| NC_000019.9:g.33793281G>C , CM000681.1:g.33793281G>C | GRCh37 |
| NC_000019.8:g.38485121G>C | NCBI36 |
| NG_012022.1:g.5150C>G , LRG_456:g.5150C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.40C>G MANE Select | ENSP00000427514.1:p.Pro14Ala | |
| ENST00000498907.2:c.40C>G | ENSP00000427514.1:p.Pro14Ala | |
| NM_001285829.1:c.-318C>G | NP_001272758.1:n.-318C>G | |
| NM_001287424.1:c.145C>G | NP_001274353.1:p.Pro49Ala | |
| NM_001287435.1:c.-3C>G | NP_001274364.1:n.-3C>G | |
| NM_004364.4:c.40C>G | NP_004355.2:p.Pro14Ala | |
| NM_001287424.2:c.145C>G | NP_001274353.1:p.Pro49Ala | |
| NM_004364.5:c.40C>G MANE Select | NP_004355.2:p.Pro14Ala | |
| NM_001285829.2:c.-318C>G | NP_001272758.1:n.-318C>G | |
| NM_001287435.2:c.-3C>G | NP_001274364.1:n.-3C>G |