Linked Data
ClinVar Variation Id:
2779021
ClinVar RCV Id:
RCV003663340
dbSNP Id:
rs1553769618
gnomAD v2:
1-145415809-T-C
gnomAD v4:
1-146019204-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.146019204A>G , CM000663.2:g.146019204A>G | GRCh38 |
| NC_000001.10:g.145415809T>C , CM000663.1:g.145415809T>C | GRCh37 |
| NC_000001.9:g.144127166T>C | NCBI36 |
| NG_011568.1:g.7619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336751.11:c.628T>C MANE Select | ENSP00000337014.5:p.Leu210= | |
| ENST00000636675.1:c.-22+494T>C | ENSP00000490072.1:n.-22+494T>C | |
| ENST00000336751.10:c.628T>C | ENSP00000337014.5:p.Leu210= | |
| ENST00000357836.5:c.289T>C | ENSP00000350495.5:p.Leu97= | |
| ENST00000475797.1:c.-21-504T>C | ENSP00000425716.1:n.-21-504T>C | |
| ENST00000497365.5:c.-22+494T>C | ENSP00000421820.1:n.-22+494T>C | |
| ENST00000634927.1:c.134+494T>C | ENSP00000489347.1:n.134+494T>C | |
| NM_001316767.1:c.-22+494T>C | NP_001303696.1:n.-22+494T>C | |
| NM_145277.4:c.289T>C | NP_660320.3:p.Leu97= | |
| NM_202004.3:c.-22+494T>C | NP_973733.1:n.-22+494T>C | |
| NM_213652.3:c.-21-504T>C | NP_998817.1:n.-21-504T>C | |
| NM_213653.3:c.628T>C | NP_998818.1:p.Leu210= | |
| XM_005272932.1:c.628T>C | XP_005272989.1:p.Leu210= | |
| NM_001316767.2:c.-22+494T>C | NP_001303696.1:n.-22+494T>C | |
| NM_145277.5:c.289T>C | NP_660320.3:p.Leu97= | |
| NM_202004.4:c.-22+494T>C | NP_973733.1:n.-22+494T>C | |
| NM_213652.4:c.-21-504T>C | NP_998817.1:n.-21-504T>C | |
| NM_001379352.1:c.628T>C | NP_001366281.1:p.Leu210= | |
| NM_213653.4:c.628T>C MANE Select | NP_998818.1:p.Leu210= |