Linked Data
dbSNP Id:
rs912152944
gnomAD v2:
1-55529387-C-T
gnomAD v3:
1-55063714-C-T
gnomAD v4:
1-55063714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063714C>T , CM000663.2:g.55063714C>T | GRCh38 |
| NC_000001.10:g.55529387C>T , CM000663.1:g.55529387C>T | GRCh37 |
| NC_000001.9:g.55301975C>T | NCBI36 |
| NG_009061.1:g.29168C>T , LRG_275:g.29168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*549C>T | ENSP00000501161.2:n.*549C>T | |
| ENST00000710286.1:c.*130C>T | ENSP00000518176.1:n.*130C>T | |
| ENST00000673903.1:c.*130C>T | ENSP00000501257.1:n.*130C>T | |
| ENST00000302118.5:c.*130C>T MANE Select | ENSP00000303208.5:n.*130C>T | |
| ENST00000490692.1:n.2755C>T | ||
| NM_174936.3:c.*130C>T , LRG_275t1:c.*130C>T | NP_777596.2:n.*130C>T | |
| NR_110451.1:n.1816C>T | ||
| XM_011541193.1:c.*130C>T | XP_011539495.1:n.*130C>T | |
| NM_174936.4:c.*130C>T MANE Select | NP_777596.2:n.*130C>T | |
| NR_110451.2:n.1816C>T |