Linked Data
ClinVar Variation Id:
16051
dbSNP Id:
rs121918420
ExAC:
12:21699391 G / T
gnomAD v2:
12-21699391-G-T
gnomAD v3:
12-21546457-G-T
gnomAD v4:
12-21546457-G-T
PubMed:
PMID:9691087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21546457G>T , CM000674.2:g.21546457G>T | GRCh38 |
| NC_000012.11:g.21699391G>T , CM000674.1:g.21699391G>T | GRCh37 |
| NC_000012.10:g.21590658G>T | NCBI36 |
| NG_016167.1:g.63391C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1436C>A MANE Select | ENSP00000261195.2:p.Pro479Gln | |
| ENST00000647960.1:c.*1438C>A | ENSP00000497202.1:n.*1438C>A | |
| ENST00000261195.2:c.1436C>A | ENSP00000261195.2:p.Pro479Gln | |
| NM_021957.3:c.1436C>A | NP_068776.2:p.Pro479Gln | |
| XM_005253352.1:c.1436C>A | XP_005253409.1:p.Pro479Gln | |
| XM_005253354.2:c.1217C>A | XP_005253411.1:p.Pro406Gln | |
| XM_006719062.2:c.1436C>A | XP_006719125.1:p.Pro479Gln | |
| XM_006719063.2:c.1205C>A | XP_006719126.1:p.Pro402Gln | |
| NM_021957.4:c.1436C>A MANE Select | NP_068776.2:p.Pro479Gln | |
| XM_006719063.3:c.1205C>A | XP_006719126.1:p.Pro402Gln | |
| XM_024448960.1:c.1436C>A | XP_024304728.1:p.Pro479Gln |