Linked Data
dbSNP Id:
rs1565600539
gnomAD v2:
12-21715917-C-G
MyVariant Identifiers:
chr12:g.21715917C>G (hg19)
chr12:g.21715917_21715919delinsGAT (hg19)
chr12:g.21562983C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562983C>G , CM000674.2:g.21562983C>G | GRCh38 |
| NC_000012.11:g.21715917C>G , CM000674.1:g.21715917C>G | GRCh37 |
| NC_000012.10:g.21607184C>G | NCBI36 |
| NG_016167.1:g.46865G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.997G>C MANE Select | ENSP00000261195.2:p.Glu333Gln | |
| ENST00000647960.1:c.*999G>C | ENSP00000497202.1:n.*999G>C | |
| ENST00000648372.1:n.924G>C | ||
| ENST00000261195.2:c.997G>C | ENSP00000261195.2:p.Glu333Gln | |
| NM_021957.3:c.997G>C | NP_068776.2:p.Glu333Gln | |
| XM_005253352.1:c.997G>C | XP_005253409.1:p.Glu333Gln | |
| XM_005253354.2:c.778G>C | XP_005253411.1:p.Glu260Gln | |
| XM_006719062.2:c.997G>C | XP_006719125.1:p.Glu333Gln | |
| XM_006719063.2:c.766G>C | XP_006719126.1:p.Glu256Gln | |
| NM_021957.4:c.997G>C MANE Select | NP_068776.2:p.Glu333Gln | |
| XM_006719063.3:c.766G>C | XP_006719126.1:p.Glu256Gln | |
| XM_017019245.2:c.997G>C | XP_016874734.1:p.Glu333Gln | |
| XM_024448960.1:c.997G>C | XP_024304728.1:p.Glu333Gln |