Linked Data
ClinVar Variation Id:
2881656
ClinVar RCV Id:
RCV003708211
dbSNP Id:
rs772489151
ExAC:
1:158582733 C / T
gnomAD v4:
1-158612943-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612943C>T , CM000663.2:g.158612943C>T | GRCh38 |
| NC_000001.10:g.158582733C>T , CM000663.1:g.158582733C>T | GRCh37 |
| NC_000001.9:g.156849357C>T | NCBI36 |
| NG_011474.1:g.78774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7008G>A MANE Select | ENSP00000495214.1:p.Leu2336= | |
| ENST00000368147.8:c.7008G>A | ENSP00000357129.4:p.Leu2336= | |
| ENST00000481212.5:n.449G>A | ||
| ENST00000498708.1:n.440G>A | ||
| ENST00000614909.4:c.7008G>A | ENSP00000482595.1:p.Leu2336= | |
| NM_003126.2:c.7008G>A | NP_003117.2:p.Leu2336= | |
| XM_011509916.1:c.7008G>A | XP_011508218.1:p.Leu2336= | |
| XM_011509917.1:c.6990G>A | XP_011508219.1:p.Leu2330= | |
| NM_003126.3:c.7008G>A | NP_003117.2:p.Leu2336= | |
| XM_011509916.2:c.7008G>A | XP_011508218.1:p.Leu2336= | |
| XM_011509917.3:c.6990G>A | XP_011508219.1:p.Leu2330= | |
| NM_003126.4:c.7008G>A MANE Select | NP_003117.2:p.Leu2336= |