Linked Data
ClinVar Variation Id:
1631074
ClinVar RCV Id:
RCV002123777
dbSNP Id:
rs771521742
ExAC:
2:136590738 C / A
gnomAD v2:
2-136590738-C-A
gnomAD v4:
2-135833168-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833168C>A , CM000664.2:g.135833168C>A | GRCh38 |
| NC_000002.11:g.136590738C>A , CM000664.1:g.136590738C>A | GRCh37 |
| NC_000002.10:g.136307208C>A | NCBI36 |
| NG_008104.2:g.27002G>T , LRG_338:g.27002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.663G>T MANE Select | ENSP00000264162.2:p.Leu221= | |
| ENST00000264162.6:c.663G>T | ENSP00000264162.2:p.Leu221= | |
| NM_002299.2:c.663G>T , LRG_338t1:c.663G>T | NP_002290.2:p.Leu221= | |
| NM_002299.3:c.663G>T | NP_002290.2:p.Leu221= | |
| XM_017004088.2:c.663G>T | XP_016859577.1:p.Leu221= | |
| NM_002299.4:c.663G>T MANE Select | NP_002290.2:p.Leu221= |