Linked Data
ClinVar Variation Id:
2001942
ClinVar RCV Id:
RCV002815826
dbSNP Id:
rs904005729
gnomAD v2:
18-21136265-T-C
gnomAD v3:
18-23556301-T-C
gnomAD v4:
18-23556301-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23556301T>C , CM000680.2:g.23556301T>C | GRCh38 |
| NC_000018.9:g.21136265T>C , CM000680.1:g.21136265T>C | GRCh37 |
| NC_000018.8:g.19390263T>C | NCBI36 |
| NG_012795.1:g.35317A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1268A>G MANE Select | ENSP00000269228.4:p.Tyr423Cys | |
| ENST00000269228.9:c.1268A>G | ENSP00000269228.4:p.Tyr423Cys | |
| ENST00000540608.5:n.1182A>G | ||
| ENST00000591051.1:c.550A>G | ||
| NM_000271.4:c.1268A>G | NP_000262.2:p.Tyr423Cys | |
| XM_005258277.1:c.1319A>G | XP_005258334.1:p.Tyr440Cys | |
| XM_005258278.3:c.1319A>G | XP_005258335.1:p.Tyr440Cys | |
| XM_005258279.1:c.1268A>G | XP_005258336.1:p.Tyr423Cys | |
| XM_006722479.2:c.1319A>G | XP_006722542.1:p.Tyr440Cys | |
| XM_011526015.1:c.854A>G | XP_011524317.1:p.Tyr285Cys | |
| XM_005258278.5:c.1319A>G | XP_005258335.1:p.Tyr440Cys | |
| XM_005258279.2:c.1268A>G | XP_005258336.1:p.Tyr423Cys | |
| XM_006722479.3:c.1319A>G | XP_006722542.1:p.Tyr440Cys | |
| XM_017025784.1:c.1319A>G | XP_016881273.1:p.Tyr440Cys | |
| XM_017025785.1:c.1319A>G | XP_016881274.1:p.Tyr440Cys | |
| XM_017025786.1:c.1268A>G | XP_016881275.1:p.Tyr423Cys | |
| XM_017025787.1:c.1268A>G | XP_016881276.1:p.Tyr423Cys | |
| NM_000271.5:c.1268A>G MANE Select | NP_000262.2:p.Tyr423Cys |