Linked Data
ClinVar Variation Id:
2682032
ClinVar RCV Id:
RCV003477324
dbSNP Id:
rs1439603624
gnomAD v2:
12-103234220-C-T
gnomAD v3:
12-102840442-C-T
gnomAD v4:
12-102840442-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840442C>T , CM000674.2:g.102840442C>T | GRCh38 |
| NC_000012.11:g.103234220C>T , CM000674.1:g.103234220C>T | GRCh37 |
| NC_000012.10:g.101758350C>T | NCBI36 |
| NG_008690.1:g.82161G>A | |
| NG_008690.2:g.122969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1273G>A MANE Select | ENSP00000448059.1:p.Asp425Asn | |
| ENST00000307000.7:c.1258G>A | ENSP00000303500.2:p.Asp420Asn | |
| ENST00000551114.2:n.935G>A | ||
| ENST00000553106.5:c.1273G>A | ENSP00000448059.1:p.Asp425Asn | |
| ENST00000635477.1:c.377G>A | ||
| ENST00000635528.1:n.788G>A | ||
| NM_000277.1:c.1273G>A | NP_000268.1:p.Asp425Asn | |
| XM_011538422.1:c.1216G>A | XP_011536724.1:p.Asp406Asn | |
| NM_000277.2:c.1273G>A | NP_000268.1:p.Asp425Asn | |
| NM_001354304.1:c.1273G>A | NP_001341233.1:p.Asp425Asn | |
| NM_000277.3:c.1273G>A MANE Select | NP_000268.1:p.Asp425Asn | |
| NM_001354304.2:c.1273G>A | NP_001341233.1:p.Asp425Asn |