Linked Data
dbSNP Id:
rs779136827
ExAC:
20:44685188 T / C
gnomAD v2:
20-44685188-T-C
gnomAD v4:
20-46056549-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056549T>C , CM000682.2:g.46056549T>C | GRCh38 |
| NC_000020.10:g.44685188T>C , CM000682.1:g.44685188T>C | GRCh37 |
| NC_000020.9:g.44118595T>C | NCBI36 |
| NG_046341.1:g.39860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.3095T>C MANE Select | ENSP00000243964.4:p.Phe1032Ser | |
| ENST00000243964.6:c.3095T>C | ENSP00000243964.3:p.Phe1032Ser | |
| ENST00000454036.6:c.3164T>C | ENSP00000387694.1:p.Phe1055Ser | |
| ENST00000616201.4:c.1298-2107T>C | ENSP00000484585.1:n.1298-2107T>C | |
| ENST00000616202.4:c.613-1932T>C | ENSP00000478369.1:n.613-1932T>C | |
| ENST00000616933.4:c.*2413T>C | ENSP00000477569.1:n.*2413T>C | |
| ENST00000626937.2:c.510-3050T>C | ENSP00000485953.1:n.510-3050T>C | |
| NM_001134771.1:c.3164T>C | NP_001128243.1:p.Phe1055Ser | |
| NM_020708.4:c.3095T>C | NP_065759.1:p.Phe1032Ser | |
| XM_017027981.1:c.3164T>C | XP_016883470.1:p.Phe1055Ser | |
| NM_001134771.2:c.3164T>C | NP_001128243.1:p.Phe1055Ser | |
| NM_020708.5:c.3095T>C MANE Select | NP_065759.1:p.Phe1032Ser |