Linked Data
ClinVar Variation Id:
472878
ClinVar RCV Id:
RCV000526052
dbSNP Id:
rs1172950083
gnomAD v2:
4-39462582-G-C
gnomAD v3:
4-39460962-G-C
gnomAD v4:
4-39460962-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39460962G>C , CM000666.2:g.39460962G>C | GRCh38 |
| NC_000004.11:g.39462582G>C , CM000666.1:g.39462582G>C | GRCh37 |
| NC_000004.10:g.39138977G>C | NCBI36 |
| NG_032111.1:g.6918G>C | |
| NG_052985.1:g.2987C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261434.8:c.218G>C | ENSP00000261434.4:p.Arg73Thr | |
| ENST00000340169.7:c.218G>C | ENSP00000340676.2:p.Arg73Thr | |
| ENST00000381846.2:c.218G>C | ENSP00000371270.1:p.Arg73Thr | |
| ENST00000513731.6:c.218G>C | ENSP00000425580.1:p.Arg73Thr | |
| ENST00000638422.1:c.218G>C | ENSP00000491001.1:p.Arg73Thr | |
| ENST00000638430.1:c.90G>C | ||
| ENST00000638451.1:c.218G>C | ENSP00000491681.1:p.Arg73Thr | |
| ENST00000638816.1:c.89G>C | ENSP00000492482.1:p.Arg30Thr | |
| ENST00000638837.1:c.218G>C | ENSP00000492038.1:p.Ser73Thr | |
| ENST00000639422.1:c.218G>C | ENSP00000491899.1:p.Arg73Thr | |
| ENST00000640349.1:c.218G>C | ENSP00000491477.1:p.Arg73Thr | |
| ENST00000640381.1:n.278G>C | ||
| ENST00000640489.1:c.*117G>C | ENSP00000492540.1:n.*117G>C | |
| ENST00000640689.1:c.218G>C | ENSP00000491591.1:p.Arg73Thr | |
| ENST00000640888.2:c.218G>C MANE Select | ENSP00000492260.1:p.Arg73Thr | |
| ENST00000261434.7:c.218G>C | ENSP00000261434.3:p.Arg73Thr | |
| ENST00000340169.6:c.218G>C | ENSP00000340676.2:p.Arg73Thr | |
| ENST00000381846.1:c.218G>C | ENSP00000371270.1:p.Arg73Thr | |
| ENST00000424936.6:n.278G>C | ||
| ENST00000509519.5:n.291G>C | ||
| ENST00000513731.5:c.218G>C | ENSP00000425580.1:p.Arg73Thr | |
| ENST00000515061.1:n.216G>C | ||
| NM_001278590.1:c.218G>C | NP_001265519.1:p.Arg73Thr | |
| NM_001278591.1:c.218G>C | NP_001265520.1:p.Arg73Thr | |
| NM_001278592.1:c.218G>C | NP_001265521.1:p.Arg73Thr | |
| NM_006859.3:c.218G>C | NP_006850.2:p.Arg73Thr | |
| NM_194451.2:c.218G>C | NP_919433.1:p.Arg73Thr | |
| XM_006713990.2:c.218G>C | XP_006714053.1:p.Arg73Thr | |
| NM_001363700.1:c.218G>C | NP_001350629.1:p.Arg73Thr | |
| XM_006713990.3:c.218G>C | XP_006714053.1:p.Arg73Thr | |
| XM_017007665.2:c.218G>C | XP_016863154.1:p.Arg73Thr | |
| XR_001741096.2:n.306G>C | ||
| NM_001278590.2:c.218G>C | NP_001265519.1:p.Arg73Thr | |
| NM_001363700.2:c.218G>C | NP_001350629.1:p.Arg73Thr | |
| NM_006859.4:c.218G>C MANE Select | NP_006850.2:p.Arg73Thr | |
| NM_194451.3:c.218G>C | NP_919433.1:p.Arg73Thr | |
| NM_001278591.2:c.218G>C | NP_001265520.1:p.Arg73Thr | |
| NM_001278592.2:c.218G>C | NP_001265521.1:p.Arg73Thr |