Linked Data
ClinVar Variation Id:
283193
dbSNP Id:
rs17029215
ExAC:
4:100521805 A / C
gnomAD v2:
4-100521805-A-C
gnomAD v3:
4-99600648-A-C
gnomAD v4:
4-99600648-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99600648A>C , CM000666.2:g.99600648A>C | GRCh38 |
| NC_000004.11:g.100521805A>C , CM000666.1:g.100521805A>C | GRCh37 |
| NC_000004.10:g.100740828A>C | NCBI36 |
| NG_011469.1:g.41566A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265517.10:c.1151A>C MANE Select | ENSP00000265517.5:p.Asp384Ala | |
| ENST00000457717.6:c.1151A>C | ENSP00000400821.1:p.Asp384Ala | |
| ENST00000511045.6:c.902A>C | ENSP00000427679.2:p.Asp301Ala | |
| ENST00000265517.9:c.1151A>C | ENSP00000265517.5:p.Asp384Ala | |
| ENST00000457717.5:c.1151A>C | ENSP00000400821.1:p.Asp384Ala | |
| ENST00000511045.5:c.1232A>C | ENSP00000427679.1:p.Asp411Ala | |
| ENST00000619629.1:c.1151A>C | ENSP00000482850.1:p.Asp384Ala | |
| NM_000253.3:c.1151A>C | NP_000244.2:p.Asp384Ala | |
| NM_001300785.1:c.1232A>C | NP_001287714.1:p.Asp411Ala | |
| NM_000253.4:c.1151A>C | NP_000244.2:p.Asp384Ala | |
| NM_001300785.2:c.902A>C | NP_001287714.2:p.Asp301Ala | |
| NM_001386140.1:c.1151A>C MANE Select | NP_001373069.1:p.Asp384Ala |