Linked Data
ClinVar Variation Id:
422006
dbSNP Id:
rs200893951
ExAC:
5:176812815 C / T
gnomAD v2:
5-176812815-C-T
gnomAD v3:
5-177385814-C-T
gnomAD v4:
5-177385814-C-T
COSMIC:
COSM385369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177385814C>T , CM000667.2:g.177385814C>T | GRCh38 |
| NC_000005.9:g.176812815C>T , CM000667.1:g.176812815C>T | GRCh37 |
| NC_000005.8:g.176745421C>T | NCBI36 |
| NG_016223.1:g.6384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324417.6:c.73C>T MANE Select | ENSP00000321424.4:p.Arg25Ter | |
| ENST00000324417.5:c.73C>T | ENSP00000321424.4:p.Arg25Ter | |
| ENST00000504577.5:c.73C>T | ENSP00000423733.1:p.Arg25Ter | |
| ENST00000507685.5:n.157C>T | ||
| ENST00000512593.5:c.73C>T | ENSP00000423022.1:p.Arg25Ter | |
| NM_001167579.1:c.73C>T | NP_001161051.1:p.Arg25Ter | |
| NM_003052.4:c.73C>T | NP_003043.3:p.Arg25Ter | |
| XM_005265975.1:c.73C>T | XP_005266032.1:p.Arg25Ter | |
| XR_941112.1:n.120C>T | ||
| XR_941113.1:n.120C>T | ||
| XM_017009773.2:c.73C>T | XP_016865262.1:p.Arg25Ter | |
| XM_017009775.2:c.73C>T | XP_016865264.1:p.Arg25Ter | |
| XM_024446191.1:c.73C>T | XP_024301959.1:p.Arg25Ter | |
| XR_941112.2:n.174C>T | ||
| XR_941113.2:n.174C>T | ||
| NM_003052.5:c.73C>T MANE Select | NP_003043.3:p.Arg25Ter | |
| NM_001167579.2:c.73C>T | NP_001161051.1:p.Arg25Ter |