Linked Data
ClinVar Variation Id:
219127
ClinVar RCV Id:
RCV000203507
dbSNP Id:
rs864321632
gnomAD v2:
12-69129114-A-C
gnomAD v4:
12-68735334-A-C
PubMed:
PMID:26411495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68735334A>C , CM000674.2:g.68735334A>C | GRCh38 |
| NC_000012.11:g.69129114A>C , CM000674.1:g.69129114A>C | GRCh37 |
| NC_000012.10:g.67415381A>C | NCBI36 |
| NG_046600.2:g.53384A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229179.9:c.2492A>C MANE Select | ENSP00000229179.4:p.Asp831Ala | |
| ENST00000229179.8:c.2492A>C | ENSP00000229179.4:p.Asp831Ala | |
| ENST00000378905.6:c.1775A>C | ENSP00000368185.2:p.Asp592Ala | |
| ENST00000401003.3:n.234+2528A>C | ||
| ENST00000535718.5:c.*1771A>C | ENSP00000445567.1:n.*1771A>C | |
| ENST00000539906.5:c.2405A>C | ENSP00000441448.1:p.Asp802Ala | |
| NM_020401.2:c.2492A>C | NP_065134.1:p.Asp831Ala | |
| XM_005269037.2:c.2432A>C | XP_005269094.1:p.Asp811Ala | |
| XM_011538576.1:c.2405A>C | XP_011536878.1:p.Asp802Ala | |
| NM_001330192.1:c.2405A>C | NP_001317121.1:p.Asp802Ala | |
| NM_020401.3:c.2492A>C | NP_065134.1:p.Asp831Ala | |
| XM_005269037.4:c.2432A>C | XP_005269094.1:p.Asp811Ala | |
| NM_020401.4:c.2492A>C MANE Select | NP_065134.1:p.Asp831Ala | |
| NM_001330192.2:c.2405A>C | NP_001317121.1:p.Asp802Ala |