Linked Data
ClinVar Variation Id:
165057
dbSNP Id:
rs727503394
ExAC:
21:43902757 A / C
gnomAD v2:
21-43902757-A-C
gnomAD v4:
21-42482647-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42482647A>C , CM000683.2:g.42482647A>C | GRCh38 |
| NC_000021.8:g.43902757A>C , CM000683.1:g.43902757A>C | GRCh37 |
| NC_000021.7:g.42775826A>C | NCBI36 |
| NG_034257.1:g.18708T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291536.8:c.563T>G MANE Select | ENSP00000291536.3:p.Leu188Ter | |
| ENST00000291536.7:c.563T>G | ENSP00000291536.3:p.Leu188Ter | |
| ENST00000398352.3:c.449T>G | ENSP00000381395.3:p.Leu150Ter | |
| ENST00000493019.1:n.2181T>G | ||
| NM_001286506.1:c.449T>G | NP_001273435.1:p.Leu150Ter | |
| NM_080860.3:c.563T>G | NP_543136.1:p.Leu188Ter | |
| XM_005261208.1:c.356T>G | XP_005261265.1:p.Leu119Ter | |
| XM_011529786.1:c.501+3022T>G | XP_011528088.1:n.501+3022T>G | |
| XM_005261208.2:c.356T>G | XP_005261265.1:p.Leu119Ter | |
| NM_080860.4:c.563T>G MANE Select | NP_543136.1:p.Leu188Ter | |
| NM_001286506.2:c.449T>G | NP_001273435.1:p.Leu150Ter |