Linked Data
ClinVar Variation Id:
337454
ClinVar RCV Id:
RCV000320768
dbSNP Id:
rs182729595
gnomAD v2:
2-96916701-A-C
gnomAD v3:
2-96250963-A-C
gnomAD v4:
2-96250963-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250963A>C , CM000664.2:g.96250963A>C | GRCh38 |
| NC_000002.11:g.96916701A>C , CM000664.1:g.96916701A>C | GRCh37 |
| NC_000002.10:g.96280428A>C | NCBI36 |
| NG_027695.1:g.20051T>G , LRG_528:g.20051T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2845T>G MANE Select | ENSP00000258439.3:n.*2845T>G | |
| ENST00000258439.7:c.*2845T>G | ENSP00000258439.2:n.*2845T>G | |
| NM_001193304.2:c.*2845T>G | NP_001180233.1:n.*2845T>G | |
| NM_017849.3:c.*2845T>G , LRG_528t1:c.*2845T>G | NP_060319.1:n.*2845T>G | |
| XM_017004450.1:c.*2146T>G | XP_016859939.1:n.*2146T>G | |
| XM_017004452.1:c.*2845T>G | XP_016859941.1:n.*2845T>G | |
| NM_001193304.3:c.*2845T>G | NP_001180233.1:n.*2845T>G | |
| NM_017849.4:c.*2845T>G MANE Select | NP_060319.1:n.*2845T>G |