Linked Data
ClinVar Variation Id:
1987139
ClinVar RCV Id:
RCV002771055
dbSNP Id:
rs149351039
ExAC:
10:8115836 C / T
gnomAD v2:
10-8115836-C-T
gnomAD v3:
10-8073873-C-T
gnomAD v4:
10-8073873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8073873C>T , CM000672.2:g.8073873C>T | GRCh38 |
| NC_000010.10:g.8115836C>T , CM000672.1:g.8115836C>T | GRCh37 |
| NC_000010.9:g.8155842C>T | NCBI36 |
| NG_015859.1:g.24170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.1182C>T | ENSP00000341619.3:p.Ala394= | |
| ENST00000379328.9:c.1185C>T MANE Select | ENSP00000368632.3:p.Ala395= | |
| ENST00000346208.3:c.1182C>T | ENSP00000341619.3:p.Ala394= | |
| ENST00000379328.7:c.1185C>T | ENSP00000368632.3:p.Ala395= | |
| ENST00000461472.1:n.704C>T | ||
| NM_001002295.1:c.1185C>T | NP_001002295.1:p.Ala395= | |
| NM_002051.2:c.1182C>T | NP_002042.1:p.Ala394= | |
| XM_005252442.2:c.1185C>T | XP_005252499.1:p.Ala395= | |
| XM_005252443.3:c.1185C>T | XP_005252500.1:p.Ala395= | |
| XM_005252443.5:c.1185C>T | XP_005252500.1:p.Ala395= | |
| NM_001002295.2:c.1185C>T MANE Select | NP_001002295.1:p.Ala395= | |
| NM_002051.3:c.1182C>T | NP_002042.1:p.Ala394= |