Linked Data
gnomAD v4:
4-1002221-C-T
COSMIC:
COSM1594702
MyVariant Identifiers:
chr4:g.996009C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002221C>T , CM000666.2:g.1002221C>T | GRCh38 |
| NC_000004.11:g.996009C>T , CM000666.1:g.996009C>T | GRCh37 |
| NC_000004.10:g.986009C>T | NCBI36 |
| NG_008103.1:g.20225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.973-48C>T | ENSP00000247933.4:n.973-48C>T | |
| ENST00000514224.2:c.973-48C>T MANE Select | ENSP00000425081.2:n.973-48C>T | |
| ENST00000652070.1:n.1029-48C>T | ||
| ENST00000247933.8:c.973-48C>T | ENSP00000247933.4:n.973-48C>T | |
| ENST00000514224.1:c.577-48C>T | ENSP00000425081.1:n.577-48C>T | |
| ENST00000514698.5:n.1032C>T | ||
| NM_000203.4:c.973-48C>T | NP_000194.2:n.973-48C>T | |
| NR_110313.1:n.1061-48C>T | ||
| XM_006713882.2:c.577-48C>T | XP_006713945.1:n.577-48C>T | |
| XM_011513459.1:c.991C>T | XP_011511761.1:p.Arg331Ter | |
| XM_011513460.1:c.832-48C>T | XP_011511762.1:n.832-48C>T | |
| XM_011513461.1:c.766-48C>T | XP_011511763.1:n.766-48C>T | |
| XM_011513462.1:c.685-48C>T | XP_011511764.1:n.685-48C>T | |
| XM_011513463.1:c.685-48C>T | XP_011511765.1:n.685-48C>T | |
| XR_924947.1:n.1042-48C>T | ||
| NM_000203.5:c.973-48C>T MANE Select | NP_000194.2:n.973-48C>T | |
| NM_001363576.1:c.577-48C>T | NP_001350505.1:n.577-48C>T | |
| XM_011513461.2:c.766-48C>T | XP_011511763.1:n.766-48C>T | |
| XM_017008163.1:c.13-48C>T | XP_016863652.1:n.13-48C>T |