Linked Data
ClinVar Variation Id:
293226
dbSNP Id:
rs202174805
ExAC:
1:160250001 T / G
gnomAD v2:
1-160250001-T-G
gnomAD v3:
1-160280211-T-G
gnomAD v4:
1-160280211-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160280211T>G , CM000663.2:g.160280211T>G | GRCh38 |
| NC_000001.10:g.160250001T>G , CM000663.1:g.160250001T>G | GRCh37 |
| NC_000001.9:g.158516625T>G | NCBI36 |
| NG_008637.1:g.9941A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.630A>C MANE Select | ENSP00000357051.5:p.Leu210= | |
| ENST00000556710.6:c.*311A>C | ENSP00000451235.2:n.*311A>C | |
| ENST00000368072.9:c.630A>C | ENSP00000357051.5:p.Leu210= | |
| ENST00000392220.2:c.570A>C | ENSP00000376054.2:p.Leu190= | |
| ENST00000462644.5:c.484A>C | ENSP00000435896.1:p.Thr162Pro | |
| ENST00000472750.5:c.*397A>C | ENSP00000434633.1:n.*397A>C | |
| ENST00000485079.1:c.240A>C | ENSP00000450870.1:p.Leu80= | |
| ENST00000495624.1:c.142A>C | ||
| ENST00000532508.5:n.712A>C | ||
| ENST00000532516.1:n.517A>C | ||
| ENST00000532643.5:c.544A>C | ENSP00000435915.1:p.Thr182Pro | |
| ENST00000556710.5:c.189A>C | ENSP00000451235.1:p.Leu63= | |
| NM_001193644.1:c.630A>C | NP_001180573.1:p.Leu210= | |
| NM_002857.3:c.630A>C | NP_002848.1:p.Leu210= | |
| NR_036492.1:n.547A>C | ||
| NR_036493.1:n.571A>C | ||
| NM_002857.4:c.630A>C MANE Select | NP_002848.1:p.Leu210= | |
| NR_036492.2:n.529A>C | ||
| NR_036493.2:n.553A>C |