Linked Data
ClinVar Variation Id:
392730
dbSNP Id:
rs762396810
ExAC:
18:20526436 C / T
gnomAD v2:
18-20526436-C-T
gnomAD v3:
18-22946473-C-T
gnomAD v4:
18-22946473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22946473C>T , CM000680.2:g.22946473C>T | GRCh38 |
| NC_000018.9:g.20526436C>T , CM000680.1:g.20526436C>T | GRCh37 |
| NC_000018.8:g.18780434C>T | NCBI36 |
| NG_012121.1:g.18142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.139C>T MANE Select | ENSP00000323050.5:p.Gln47Ter | |
| ENST00000327155.9:c.139C>T | ENSP00000323050.5:p.Gln47Ter | |
| ENST00000360790.9:c.139C>T | ENSP00000354024.5:p.Gln47Ter | |
| ENST00000399721.6:c.139C>T | ENSP00000382627.2:p.Gln47Ter | |
| ENST00000399722.6:c.139C>T | ENSP00000382628.2:p.Gln47Ter | |
| ENST00000399725.6:c.139C>T | ENSP00000382630.2:p.Gln47Ter | |
| ENST00000579124.5:c.139C>T | ENSP00000462390.1:p.Gln47Ter | |
| ENST00000580892.1:n.135C>T | ||
| ENST00000581819.5:c.139C>T | ENSP00000463439.1:p.Gln47Ter | |
| ENST00000582354.5:c.139C>T | ENSP00000463738.1:p.Gln47Ter | |
| NM_002894.2:c.139C>T | NP_002885.1:p.Gln47Ter | |
| NM_203291.1:c.139C>T | NP_976036.1:p.Gln47Ter | |
| NM_203292.1:c.139C>T | NP_976037.1:p.Gln47Ter | |
| XM_005258325.1:c.139C>T | XP_005258382.1:p.Gln47Ter | |
| XM_006722519.1:c.139C>T | XP_006722582.1:p.Gln47Ter | |
| XM_006722520.1:c.139C>T | XP_006722583.1:p.Gln47Ter | |
| XM_006722521.1:c.139C>T | XP_006722584.1:p.Gln47Ter | |
| XM_011526132.1:c.139C>T | XP_011524434.1:p.Gln47Ter | |
| XM_005258325.3:c.139C>T | XP_005258382.1:p.Gln47Ter | |
| XM_005258326.4:c.-778C>T | XP_005258383.1:n.-778C>T | |
| XM_006722519.2:c.139C>T | XP_006722582.1:p.Gln47Ter | |
| XM_006722520.2:c.139C>T | XP_006722583.1:p.Gln47Ter | |
| XM_006722521.2:c.139C>T | XP_006722584.1:p.Gln47Ter | |
| XM_011526132.2:c.139C>T | XP_011524434.1:p.Gln47Ter | |
| XM_017025916.1:c.-844C>T | XP_016881405.1:n.-844C>T | |
| XM_024451233.1:c.-222C>T | XP_024307001.1:n.-222C>T | |
| NM_002894.3:c.139C>T MANE Select | NP_002885.1:p.Gln47Ter | |
| NM_203291.2:c.139C>T | NP_976036.1:p.Gln47Ter | |
| NM_203292.2:c.139C>T | NP_976037.1:p.Gln47Ter |