Linked Data
ClinVar Variation Id:
1536571
ClinVar RCV Id:
RCV002156791
dbSNP Id:
rs1222437687
gnomAD v2:
6-144507944-C-T
gnomAD v4:
6-144186807-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144186807C>T , CM000668.2:g.144186807C>T | GRCh38 |
| NC_000006.11:g.144507944C>T , CM000668.1:g.144507944C>T | GRCh37 |
| NC_000006.10:g.144549637C>T | NCBI36 |
| NG_007613.1:g.41291C>T , LRG_113:g.41291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698355.1:c.180C>T | ENSP00000513678.1:p.Ala60= | |
| ENST00000698356.1:c.180C>T | ENSP00000513679.1:p.Ala60= | |
| ENST00000698357.1:c.180C>T | ENSP00000513680.1:p.Ala60= | |
| ENST00000367568.5:c.180C>T MANE Select | ENSP00000356540.4:p.Ala60= | |
| ENST00000367568.4:c.180C>T | ENSP00000356540.4:p.Ala60= | |
| NM_003764.3:c.180C>T , LRG_113t1:c.180C>T | NP_003755.2:p.Ala60= | |
| XM_011536213.1:c.258C>T | XP_011534515.1:p.Ala86= | |
| XM_011536214.1:c.180C>T | XP_011534516.1:p.Ala60= | |
| XM_011536215.1:c.180C>T | XP_011534517.1:p.Ala60= | |
| XM_011536216.1:c.180C>T | XP_011534518.1:p.Ala60= | |
| XM_011536217.1:c.180C>T | XP_011534519.1:p.Ala60= | |
| XM_011536218.1:c.180C>T | XP_011534520.1:p.Ala60= | |
| XM_011536213.2:c.258C>T | XP_011534515.1:p.Ala86= | |
| XM_011536214.2:c.180C>T | XP_011534516.1:p.Ala60= | |
| XM_011536217.2:c.180C>T | XP_011534519.1:p.Ala60= | |
| XM_011536218.2:c.180C>T | XP_011534520.1:p.Ala60= | |
| XM_017011400.1:c.180C>T | XP_016866889.1:p.Ala60= | |
| NM_003764.4:c.180C>T MANE Select | NP_003755.2:p.Ala60= |