Linked Data
ClinVar Variation Id:
891015
ClinVar RCV Id:
RCV001126035
dbSNP Id:
rs41385144
gnomAD v3:
17-44372244-A-G
gnomAD v4:
17-44372244-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372244A>G , CM000679.2:g.44372244A>G | GRCh38 |
| NC_000017.10:g.42449612A>G , CM000679.1:g.42449612A>G | GRCh37 |
| NC_000017.9:g.39805138A>G | NCBI36 |
| NG_008331.1:g.22262T>C , LRG_479:g.22262T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*120T>C MANE Select | ENSP00000262407.5:n.*120T>C | |
| ENST00000648408.1:c.2554T>C | ||
| ENST00000262407.5:c.*120T>C | ENSP00000262407.5:n.*120T>C | |
| ENST00000587295.5:c.433T>C | ||
| ENST00000588098.1:c.217T>C | ||
| NM_000419.3:c.*120T>C , LRG_479t1:c.*120T>C | NP_000410.2:n.*120T>C | |
| XM_011524749.1:c.*120T>C | XP_011523051.1:n.*120T>C | |
| XM_011524750.1:c.*120T>C | XP_011523052.1:n.*120T>C | |
| NM_000419.4:c.*120T>C | NP_000410.2:n.*120T>C | |
| NM_000419.5:c.*120T>C MANE Select | NP_000410.2:n.*120T>C |