Linked Data
ClinVar Variation Id:
392105
dbSNP Id:
rs1057524362
gnomAD v2:
1-33245866-T-G
gnomAD v3:
1-32780265-T-G
gnomAD v4:
1-32780265-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780265T>G , CM000663.2:g.32780265T>G | GRCh38 |
| NC_000001.10:g.33245866T>G , CM000663.1:g.33245866T>G | GRCh37 |
| NC_000001.9:g.33018453T>G | NCBI36 |
| NG_008408.1:g.42768A>C , LRG_273:g.42768A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1007A>C | ENSP00000502019.1:p.Asp336Ala | |
| ENST00000373477.9:c.1154A>C MANE Select | ENSP00000362576.4:p.Asp385Ala | |
| ENST00000674629.1:c.*702A>C | ENSP00000502470.1:n.*702A>C | |
| ENST00000674654.1:c.*1114A>C | ENSP00000501729.1:n.*1114A>C | |
| ENST00000675785.1:c.1007A>C | ENSP00000502019.1:p.Asp336Ala | |
| ENST00000676297.1:c.*1328A>C | ENSP00000501596.1:n.*1328A>C | |
| ENST00000373477.8:c.1154A>C | ENSP00000362576.4:p.Asp385Ala | |
| ENST00000469100.5:n.1070A>C | ||
| ENST00000478828.1:n.621A>C | ||
| ENST00000487404.5:n.1464A>C | ||
| ENST00000490826.1:n.447A>C | ||
| ENST00000616261.1:c.1153A>C | ENSP00000484192.1:p.Thr385Pro | |
| NM_003680.3:c.1154A>C , LRG_273t1:c.1154A>C | NP_003671.1:p.Asp385Ala | |
| XM_011542347.1:c.524A>C | XP_011540649.1:p.Asp175Ala | |
| XM_011542348.1:c.524A>C | XP_011540650.1:p.Asp175Ala | |
| XM_011542347.2:c.524A>C | XP_011540649.1:p.Asp175Ala | |
| XM_017002651.2:c.524A>C | XP_016858140.1:p.Asp175Ala | |
| NM_003680.4:c.1154A>C MANE Select | NP_003671.1:p.Asp385Ala |