Linked Data
ClinVar Variation Id:
901062
ClinVar RCV Id:
RCV001146710
dbSNP Id:
rs903439082
gnomAD v2:
3-150690311-T-C
gnomAD v4:
3-150972524-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972524T>C , CM000665.2:g.150972524T>C | GRCh38 |
| NC_000003.11:g.150690311T>C , CM000665.1:g.150690311T>C | GRCh37 |
| NC_000003.10:g.152173001T>C | NCBI36 |
| NG_009168.1:g.5476A>G , LRG_700:g.5476A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.185A>G MANE Select | ENSP00000322280.1:p.Gln62Arg | |
| ENST00000468836.2:c.161A>G | ENSP00000419892.2:p.Gln54Arg | |
| ENST00000644099.1:c.26A>G | ENSP00000494762.1:p.Gln9Arg | |
| ENST00000645441.1:c.27A>G | ||
| ENST00000327047.5:c.185A>G | ENSP00000322280.1:p.Gln62Arg | |
| ENST00000328863.8:c.185A>G | ENSP00000329158.4:p.Gln62Arg | |
| ENST00000468836.1:c.-216A>G | ENSP00000419892.1:n.-216A>G | |
| ENST00000472224.1:n.191A>G | ||
| NM_001195794.1:c.185A>G , LRG_700t1:c.185A>G | NP_001182723.1:p.Gln62Arg | |
| NM_001256819.1:c.185A>G | NP_001243748.1:p.Gln62Arg | |
| NM_174878.2:c.185A>G | NP_777367.1:p.Gln62Arg | |
| NR_046380.2:n.476A>G | ||
| XR_924167.1:n.497A>G | ||
| NM_001256819.2:c.185A>G | NP_001243748.1:p.Gln62Arg | |
| NM_174878.3:c.185A>G MANE Select | NP_777367.1:p.Gln62Arg | |
| NR_046380.3:n.204A>G |