Linked Data
ClinVar Variation Id:
16052
dbSNP Id:
rs121918421
ExAC:
12:21715899 C / G
gnomAD v2:
12-21715899-C-G
gnomAD v3:
12-21562965-C-G
gnomAD v4:
12-21562965-C-G
PubMed:
PMID:9691087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562965C>G , CM000674.2:g.21562965C>G | GRCh38 |
| NC_000012.11:g.21715899C>G , CM000674.1:g.21715899C>G | GRCh37 |
| NC_000012.10:g.21607166C>G | NCBI36 |
| NG_016167.1:g.46883G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1015G>C MANE Select | ENSP00000261195.2:p.Ala339Pro | |
| ENST00000647960.1:c.*1017G>C | ENSP00000497202.1:n.*1017G>C | |
| ENST00000648372.1:n.942G>C | ||
| ENST00000261195.2:c.1015G>C | ENSP00000261195.2:p.Ala339Pro | |
| NM_021957.3:c.1015G>C | NP_068776.2:p.Ala339Pro | |
| XM_005253352.1:c.1015G>C | XP_005253409.1:p.Ala339Pro | |
| XM_005253354.2:c.796G>C | XP_005253411.1:p.Ala266Pro | |
| XM_006719062.2:c.1015G>C | XP_006719125.1:p.Ala339Pro | |
| XM_006719063.2:c.784G>C | XP_006719126.1:p.Ala262Pro | |
| NM_021957.4:c.1015G>C MANE Select | NP_068776.2:p.Ala339Pro | |
| XM_006719063.3:c.784G>C | XP_006719126.1:p.Ala262Pro | |
| XM_017019245.2:c.1015G>C | XP_016874734.1:p.Ala339Pro | |
| XM_024448960.1:c.1015G>C | XP_024304728.1:p.Ala339Pro |