Linked Data
ClinVar Variation Id:
1500548
ClinVar RCV Id:
RCV002657655
dbSNP Id:
rs758548184
gnomAD v4:
16-50699557-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50699557G>C , CM000678.2:g.50699557G>C | GRCh38 |
| NC_000016.9:g.50733468G>C , CM000678.1:g.50733468G>C | GRCh37 |
| NC_000016.8:g.49290969G>C | NCBI36 |
| NG_007508.1:g.7419G>C , LRG_177:g.7419G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.62G>C | ENSP00000493088.1:p.Gly21Ala | |
| ENST00000646677.2:c.62G>C | ENSP00000496533.1:p.Gly21Ala | |
| ENST00000641284.1:c.62G>C | ENSP00000493088.1:p.Gly21Ala | |
| ENST00000646677.1:c.62G>C | ENSP00000496533.1:p.Gly21Ala | |
| ENST00000647318.2:c.62G>C MANE Select | ENSP00000495993.1:p.Gly21Ala | |
| ENST00000300589.6:c.143G>C | ENSP00000300589.2:p.Gly48Ala | |
| ENST00000526417.6:n.130G>C | ||
| ENST00000527070.5:c.*758G>C | ENSP00000435149.1:n.*758G>C | |
| ENST00000531674.1:c.62G>C | ENSP00000431681.1:p.Gly21Ala | |
| ENST00000532206.1:n.247G>C | ||
| NM_001293557.1:c.62G>C | NP_001280486.1:p.Gly21Ala | |
| NM_022162.2:c.143G>C | NP_071445.1:p.Gly48Ala | |
| XM_005256084.2:c.62G>C | XP_005256141.1:p.Gly21Ala | |
| XM_006721242.2:c.62G>C | XP_006721305.1:p.Gly21Ala | |
| XM_006721243.2:c.62G>C | XP_006721306.1:p.Gly21Ala | |
| XM_011523258.1:c.-38+5895G>C | XP_011521560.1:n.-38+5895G>C | |
| XM_011523259.1:c.-418G>C | XP_011521561.1:n.-418G>C | |
| XM_011523260.1:c.62G>C | XP_011521562.1:p.Gly21Ala | |
| XM_011523261.1:c.62G>C | XP_011521563.1:p.Gly21Ala | |
| XR_429725.2:n.152G>C | ||
| XR_429726.2:n.152G>C | ||
| XR_933387.1:n.152G>C | ||
| XM_005256084.4:c.62G>C | XP_005256141.1:p.Gly21Ala | |
| XM_006721242.4:c.62G>C | XP_006721305.1:p.Gly21Ala | |
| XM_006721243.4:c.62G>C | XP_006721306.1:p.Gly21Ala | |
| XM_011523259.2:c.-418G>C | XP_011521561.1:n.-418G>C | |
| XM_011523260.3:c.62G>C | XP_011521562.1:p.Gly21Ala | |
| XM_011523261.2:c.62G>C | XP_011521563.1:p.Gly21Ala | |
| XM_017023536.1:c.-127+5895G>C | XP_016879025.1:n.-127+5895G>C | |
| XM_017023537.1:c.-21+5895G>C | XP_016879026.1:n.-21+5895G>C | |
| XR_429725.3:n.105G>C | ||
| XR_429726.3:n.105G>C | ||
| XR_933387.2:n.105G>C | ||
| NM_001293557.2:c.62G>C | NP_001280486.1:p.Gly21Ala | |
| NM_001370466.1:c.62G>C MANE Select | NP_001357395.1:p.Gly21Ala | |
| NM_022162.3:c.143G>C | NP_071445.1:p.Gly48Ala | |
| NR_163434.1:n.127G>C |