Linked Data
ClinVar Variation Id:
214529
dbSNP Id:
rs201157731
ExAC:
12:21727209 G / A
gnomAD v2:
12-21727209-G-A
gnomAD v3:
12-21574275-G-A
gnomAD v4:
12-21574275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21574275G>A , CM000674.2:g.21574275G>A | GRCh38 |
| NC_000012.11:g.21727209G>A , CM000674.1:g.21727209G>A | GRCh37 |
| NC_000012.10:g.21618476G>A | NCBI36 |
| NG_016167.1:g.35573C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.547C>T MANE Select | ENSP00000261195.2:p.Gln183Ter | |
| ENST00000647960.1:c.*549C>T | ENSP00000497202.1:n.*549C>T | |
| ENST00000648372.1:n.474C>T | ||
| ENST00000261195.2:c.547C>T | ENSP00000261195.2:p.Gln183Ter | |
| NM_021957.3:c.547C>T | NP_068776.2:p.Gln183Ter | |
| XM_005253352.1:c.547C>T | XP_005253409.1:p.Gln183Ter | |
| XM_005253354.2:c.328C>T | XP_005253411.1:p.Gln110Ter | |
| XM_006719062.2:c.547C>T | XP_006719125.1:p.Gln183Ter | |
| XM_006719063.2:c.316C>T | XP_006719126.1:p.Gln106Ter | |
| NM_021957.4:c.547C>T MANE Select | NP_068776.2:p.Gln183Ter | |
| XM_006719063.3:c.316C>T | XP_006719126.1:p.Gln106Ter | |
| XM_017019245.2:c.547C>T | XP_016874734.1:p.Gln183Ter | |
| XM_024448960.1:c.547C>T | XP_024304728.1:p.Gln183Ter |