Linked Data
ClinVar Variation Id:
2890937
ClinVar RCV Id:
RCV003615184
dbSNP Id:
rs200527024
ExAC:
6:144508010 C / T
gnomAD v2:
6-144508010-C-T
gnomAD v3:
6-144186873-C-T
gnomAD v4:
6-144186873-C-T
COSMIC:
COSM4480950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186873C>T , CM000668.2:g.144186873C>T | GRCh38 |
| NC_000006.11:g.144508010C>T , CM000668.1:g.144508010C>T | GRCh37 |
| NC_000006.10:g.144549703C>T | NCBI36 |
| NG_007613.1:g.41357C>T , LRG_113:g.41357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698355.1:c.246C>T | ENSP00000513678.1:p.Ile82= | |
| ENST00000698356.1:c.246C>T | ENSP00000513679.1:p.Ile82= | |
| ENST00000698357.1:c.246C>T | ENSP00000513680.1:p.Ile82= | |
| ENST00000367568.5:c.246C>T MANE Select | ENSP00000356540.4:p.Ile82= | |
| ENST00000367568.4:c.246C>T | ENSP00000356540.4:p.Ile82= | |
| NM_003764.3:c.246C>T , LRG_113t1:c.246C>T | NP_003755.2:p.Ile82= | |
| XM_011536213.1:c.324C>T | XP_011534515.1:p.Ile108= | |
| XM_011536214.1:c.246C>T | XP_011534516.1:p.Ile82= | |
| XM_011536215.1:c.246C>T | XP_011534517.1:p.Ile82= | |
| XM_011536216.1:c.246C>T | XP_011534518.1:p.Ile82= | |
| XM_011536217.1:c.246C>T | XP_011534519.1:p.Ile82= | |
| XM_011536218.1:c.246C>T | XP_011534520.1:p.Ile82= | |
| XM_011536213.2:c.324C>T | XP_011534515.1:p.Ile108= | |
| XM_011536214.2:c.246C>T | XP_011534516.1:p.Ile82= | |
| XM_011536217.2:c.246C>T | XP_011534519.1:p.Ile82= | |
| XM_011536218.2:c.246C>T | XP_011534520.1:p.Ile82= | |
| XM_017011400.1:c.246C>T | XP_016866889.1:p.Ile82= | |
| NM_003764.4:c.246C>T MANE Select | NP_003755.2:p.Ile82= |