Linked Data
dbSNP Id:
rs138606824
ExAC:
2:16085823 C / T
gnomAD v2:
2-16085823-C-T
gnomAD v3:
2-15945701-C-T
gnomAD v4:
2-15945701-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15945701C>T , CM000664.2:g.15945701C>T | GRCh38 |
| NC_000002.11:g.16085823C>T , CM000664.1:g.16085823C>T | GRCh37 |
| NC_000002.10:g.16003274C>T | NCBI36 |
| NG_007457.1:g.10141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703162.1:n.348C>T | ||
| ENST00000281043.4:c.999C>T MANE Select | ENSP00000281043.3:p.Ala333= | |
| ENST00000638417.1:c.366C>T | ENSP00000491476.1:p.Ala122= | |
| ENST00000281043.3:c.999C>T | ENSP00000281043.3:p.Ala333= | |
| NM_001293228.1:c.999C>T | NP_001280157.1:p.Ala333= | |
| NM_001293231.1:c.366C>T | NP_001280160.1:p.Ala122= | |
| NM_001293233.1:c.*934C>T | NP_001280162.1:n.*934C>T | |
| NM_005378.5:c.999C>T | NP_005369.2:p.Ala333= | |
| NM_005378.6:c.999C>T MANE Select | NP_005369.2:p.Ala333= | |
| NM_001293228.2:c.999C>T | NP_001280157.1:p.Ala333= | |
| NM_001293231.2:c.366C>T | NP_001280160.1:p.Ala122= | |
| NM_001293233.2:c.*934C>T | NP_001280162.1:n.*934C>T |