Linked Data
ClinVar Variation Id:
3084822
ClinVar RCV Id:
RCV004381685
dbSNP Id:
rs368501877
ExAC:
21:45681058 C / T
gnomAD v2:
21-45681058-C-T
gnomAD v3:
21-44261175-C-T
gnomAD v4:
21-44261175-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44261175C>T , CM000683.2:g.44261175C>T | GRCh38 |
| NC_000021.8:g.45681058C>T , CM000683.1:g.45681058C>T | GRCh37 |
| NC_000021.7:g.44505486C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628202.3:c.85G>A MANE Select | ENSP00000486001.1:p.Val29Ile | |
| ENST00000270172.7:c.85G>A | ENSP00000270172.3:p.Val29Ile | |
| ENST00000431166.1:c.85G>A | ENSP00000400242.1:p.Val29Ile | |
| ENST00000628202.2:c.85G>A | ENSP00000486001.1:p.Val29Ile | |
| NM_013369.3:c.85G>A | NP_037501.2:p.Val29Ile | |
| NM_175867.2:c.85G>A | NP_787063.1:p.Val29Ile | |
| XM_011529536.1:c.85G>A | XP_011527838.1:p.Val29Ile | |
| NM_013369.4:c.85G>A | NP_037501.2:p.Val29Ile | |
| NM_175867.3:c.85G>A MANE Select | NP_787063.1:p.Val29Ile |