Linked Data
ClinVar Variation Id:
715749
ClinVar RCV Id:
RCV000888263
dbSNP Id:
rs34414870
ExAC:
20:3721485 G / C
gnomAD v2:
20-3721485-G-C
gnomAD v3:
20-3740838-G-C
gnomAD v4:
20-3740838-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3740838G>C , CM000682.2:g.3740838G>C | GRCh38 |
| NC_000020.10:g.3721485G>C , CM000682.1:g.3721485G>C | GRCh37 |
| NC_000020.9:g.3669485G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254963.7:c.67G>C MANE Select | ENSP00000254963.2:p.Val23Leu | |
| ENST00000254963.6:c.67G>C | ENSP00000254963.2:p.Val23Leu | |
| ENST00000399701.1:c.-117-1446G>C | ENSP00000382608.1:n.-117-1446G>C | |
| NM_001197327.1:c.67G>C | NP_001184256.1:p.Val23Leu | |
| NM_052970.4:c.67G>C | NP_443202.3:p.Val23Leu | |
| XM_005260656.2:c.-117-1446G>C | XP_005260713.1:n.-117-1446G>C | |
| XM_011529149.1:c.139G>C | XP_011527451.1:p.Val47Leu | |
| XM_011529150.1:c.139G>C | XP_011527452.1:p.Val47Leu | |
| XM_011529152.1:c.139G>C | XP_011527454.1:p.Val47Leu | |
| NM_001318322.1:c.-117-1446G>C | NP_001305251.1:n.-117-1446G>C | |
| XM_017027632.2:c.67G>C | XP_016883121.1:p.Val23Leu | |
| XM_017027633.1:c.67G>C | XP_016883122.1:p.Val23Leu | |
| XM_017027634.1:c.67G>C | XP_016883123.1:p.Val23Leu | |
| XM_017027635.1:c.67G>C | XP_016883124.1:p.Val23Leu | |
| NM_052970.5:c.67G>C MANE Select | NP_443202.3:p.Val23Leu | |
| NM_001197327.2:c.67G>C | NP_001184256.1:p.Val23Leu | |
| NM_001318322.2:c.-117-1446G>C | NP_001305251.1:n.-117-1446G>C |