Linked Data
ClinVar Variation Id:
2428043
ClinVar RCV Id:
RCV003117014
dbSNP Id:
rs886043085
gnomAD v2:
12-103234283-C-A
gnomAD v3:
12-102840505-C-A
gnomAD v4:
12-102840505-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840505C>A , CM000674.2:g.102840505C>A | GRCh38 |
| NC_000012.11:g.103234283C>A , CM000674.1:g.103234283C>A | GRCh37 |
| NC_000012.10:g.101758413C>A | NCBI36 |
| NG_008690.1:g.82098G>T | |
| NG_008690.2:g.122906G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1210G>T MANE Select | ENSP00000448059.1:p.Ala404Ser | |
| ENST00000307000.7:c.1195G>T | ENSP00000303500.2:p.Ala399Ser | |
| ENST00000551114.2:n.872G>T | ||
| ENST00000553106.5:c.1210G>T | ENSP00000448059.1:p.Ala404Ser | |
| ENST00000635477.1:c.314G>T | ||
| ENST00000635528.1:n.725G>T | ||
| NM_000277.1:c.1210G>T | NP_000268.1:p.Ala404Ser | |
| XM_011538422.1:c.1153G>T | XP_011536724.1:p.Ala385Ser | |
| NM_000277.2:c.1210G>T | NP_000268.1:p.Ala404Ser | |
| NM_001354304.1:c.1210G>T | NP_001341233.1:p.Ala404Ser | |
| NM_000277.3:c.1210G>T MANE Select | NP_000268.1:p.Ala404Ser | |
| NM_001354304.2:c.1210G>T | NP_001341233.1:p.Ala404Ser |