Linked Data
dbSNP Id:
rs1219981050
gnomAD v2:
12-21715901-C-T
gnomAD v3:
12-21562967-C-T
gnomAD v4:
12-21562967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21562967C>T , CM000674.2:g.21562967C>T | GRCh38 |
| NC_000012.11:g.21715901C>T , CM000674.1:g.21715901C>T | GRCh37 |
| NC_000012.10:g.21607168C>T | NCBI36 |
| NG_016167.1:g.46881G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1013G>A MANE Select | ENSP00000261195.2:p.Gly338Glu | |
| ENST00000647960.1:c.*1015G>A | ENSP00000497202.1:n.*1015G>A | |
| ENST00000648372.1:n.940G>A | ||
| ENST00000261195.2:c.1013G>A | ENSP00000261195.2:p.Gly338Glu | |
| NM_021957.3:c.1013G>A | NP_068776.2:p.Gly338Glu | |
| XM_005253352.1:c.1013G>A | XP_005253409.1:p.Gly338Glu | |
| XM_005253354.2:c.794G>A | XP_005253411.1:p.Gly265Glu | |
| XM_006719062.2:c.1013G>A | XP_006719125.1:p.Gly338Glu | |
| XM_006719063.2:c.782G>A | XP_006719126.1:p.Gly261Glu | |
| NM_021957.4:c.1013G>A MANE Select | NP_068776.2:p.Gly338Glu | |
| XM_006719063.3:c.782G>A | XP_006719126.1:p.Gly261Glu | |
| XM_017019245.2:c.1013G>A | XP_016874734.1:p.Gly338Glu | |
| XM_024448960.1:c.1013G>A | XP_024304728.1:p.Gly338Glu |