Linked Data
ClinVar Variation Id:
1156555
dbSNP Id:
rs137877851
gnomAD v2:
1-17371333-T-C
gnomAD v3:
1-17044838-T-C
gnomAD v4:
1-17044838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044838T>C , CM000663.2:g.17044838T>C | GRCh38 |
| NC_000001.10:g.17371333T>C , CM000663.1:g.17371333T>C | GRCh37 |
| NC_000001.9:g.17243920T>C | NCBI36 |
| NG_012340.1:g.14333A>G , LRG_316:g.14333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-49A>G | ENSP00000481376.2:n.-49A>G | |
| ENST00000491274.6:c.81A>G | ENSP00000480482.2:p.Lys27= | |
| ENST00000375499.8:c.123A>G MANE Select | ENSP00000364649.3:p.Lys41= | |
| ENST00000375499.7:c.123A>G | ENSP00000364649.3:p.Lys41= | |
| ENST00000463045.2:c.-49A>G | ENSP00000481376.1:n.-49A>G | |
| ENST00000466613.2:n.135A>G | ||
| ENST00000475506.1:n.40A>G | ||
| ENST00000485515.5:n.111A>G | ||
| ENST00000491274.5:c.81A>G | ENSP00000480482.1:p.Lys27= | |
| NM_003000.2:c.123A>G , LRG_316t1:c.123A>G | NP_002991.2:p.Lys41= | |
| NM_003000.3:c.123A>G MANE Select | NP_002991.2:p.Lys41= |