Linked Data
ClinVar Variation Id:
472877
ClinVar RCV Id:
RCV000542397
dbSNP Id:
rs1041843537
gnomAD v4:
4-39460864-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39460864G>T , CM000666.2:g.39460864G>T | GRCh38 |
| NC_000004.11:g.39462484G>T , CM000666.1:g.39462484G>T | GRCh37 |
| NC_000004.10:g.39138879G>T | NCBI36 |
| NG_032111.1:g.6820G>T | |
| NG_052985.1:g.3085C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261434.8:c.120G>T | ENSP00000261434.4:p.Gln40His | |
| ENST00000340169.7:c.120G>T | ENSP00000340676.2:p.Gln40His | |
| ENST00000381846.2:c.120G>T | ENSP00000371270.1:p.Gln40His | |
| ENST00000513731.6:c.120G>T | ENSP00000425580.1:p.Gln40His | |
| ENST00000638422.1:c.120G>T | ENSP00000491001.1:p.Gln40His | |
| ENST00000638451.1:c.120G>T | ENSP00000491681.1:p.Gln40His | |
| ENST00000638837.1:c.120G>T | ENSP00000492038.1:p.Gln40His | |
| ENST00000639422.1:c.120G>T | ENSP00000491899.1:p.Gln40His | |
| ENST00000640349.1:c.120G>T | ENSP00000491477.1:p.Gln40His | |
| ENST00000640381.1:n.180G>T | ||
| ENST00000640489.1:c.*19G>T | ENSP00000492540.1:n.*19G>T | |
| ENST00000640689.1:c.120G>T | ENSP00000491591.1:p.Gln40His | |
| ENST00000640888.2:c.120G>T MANE Select | ENSP00000492260.1:p.Gln40His | |
| ENST00000261434.7:c.120G>T | ENSP00000261434.3:p.Gln40His | |
| ENST00000340169.6:c.120G>T | ENSP00000340676.2:p.Gln40His | |
| ENST00000381846.1:c.120G>T | ENSP00000371270.1:p.Gln40His | |
| ENST00000424936.6:n.180G>T | ||
| ENST00000509519.5:n.193G>T | ||
| ENST00000513731.5:c.120G>T | ENSP00000425580.1:p.Gln40His | |
| ENST00000515061.1:n.118G>T | ||
| NM_001278590.1:c.120G>T | NP_001265519.1:p.Gln40His | |
| NM_001278591.1:c.120G>T | NP_001265520.1:p.Gln40His | |
| NM_001278592.1:c.120G>T | NP_001265521.1:p.Gln40His | |
| NM_006859.3:c.120G>T | NP_006850.2:p.Gln40His | |
| NM_194451.2:c.120G>T | NP_919433.1:p.Gln40His | |
| XM_006713990.2:c.120G>T | XP_006714053.1:p.Gln40His | |
| NM_001363700.1:c.120G>T | NP_001350629.1:p.Gln40His | |
| XM_006713990.3:c.120G>T | XP_006714053.1:p.Gln40His | |
| XM_017007665.2:c.120G>T | XP_016863154.1:p.Gln40His | |
| XR_001741096.2:n.208G>T | ||
| NM_001278590.2:c.120G>T | NP_001265519.1:p.Gln40His | |
| NM_001363700.2:c.120G>T | NP_001350629.1:p.Gln40His | |
| NM_006859.4:c.120G>T MANE Select | NP_006850.2:p.Gln40His | |
| NM_194451.3:c.120G>T | NP_919433.1:p.Gln40His | |
| NM_001278591.2:c.120G>T | NP_001265520.1:p.Gln40His | |
| NM_001278592.2:c.120G>T | NP_001265521.1:p.Gln40His |