Linked Data
ClinVar Variation Id:
100363
dbSNP Id:
rs61753994
gnomAD v2:
12-6219623-A-G
gnomAD v4:
12-6110457-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110457A>G , CM000674.2:g.6110457A>G | GRCh38 |
| NC_000012.11:g.6219623A>G , CM000674.1:g.6219623A>G | GRCh37 |
| NC_000012.10:g.6089884A>G | NCBI36 |
| NG_009072.1:g.19214T>C | |
| NG_009072.2:g.19214T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.449T>C MANE Select | ENSP00000261405.5:p.Leu150Pro | |
| ENST00000261405.9:c.449T>C | ENSP00000261405.5:p.Leu150Pro | |
| ENST00000321023.5:c.*508T>C | ENSP00000461331.1:n.*508T>C | |
| ENST00000538635.5:n.420+58T>C | ||
| NM_000552.3:c.449T>C | NP_000543.2:p.Leu150Pro | |
| NM_000552.4:c.449T>C | NP_000543.2:p.Leu150Pro | |
| NM_000552.5:c.449T>C MANE Select | NP_000543.3:p.Leu150Pro |