Linked Data
dbSNP Id:
rs778373914
ExAC:
5:52394520 G / A
gnomAD v2:
5-52394520-G-A
gnomAD v3:
5-53098690-G-A
gnomAD v4:
5-53098690-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53098690G>A , CM000667.2:g.53098690G>A | GRCh38 |
| NC_000005.9:g.52394520G>A , CM000667.1:g.52394520G>A | GRCh37 |
| NC_000005.8:g.52430277G>A | NCBI36 |
| NG_008435.2:g.16079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.502-23C>T MANE Select | ENSP00000380157.3:n.502-23C>T | |
| ENST00000450852.8:c.*422-23C>T MANE Plus Clinical | ENSP00000411022.3:n.*422-23C>T | |
| ENST00000361377.8:c.*271-23C>T | ENSP00000355160.4:n.*271-23C>T | |
| ENST00000396954.7:c.502-23C>T | ENSP00000380157.3:n.502-23C>T | |
| ENST00000450852.7:c.*422-23C>T | ENSP00000411022.3:n.*422-23C>T | |
| ENST00000502402.5:n.2249-23C>T | ||
| ENST00000508922.5:c.*319C>T | ENSP00000426274.1:n.*319C>T | |
| ENST00000510818.6:c.*375-23C>T | ENSP00000424267.2:n.*375-23C>T | |
| ENST00000582677.5:c.*143-23C>T | ENSP00000462870.1:n.*143-23C>T | |
| ENST00000584946.5:c.*294-23C>T | ENSP00000464663.1:n.*294-23C>T | |
| NM_004531.4:c.502-23C>T | NP_004522.1:n.502-23C>T | |
| NM_176806.3:c.*422-23C>T | NP_789776.1:n.*422-23C>T | |
| NM_004531.5:c.502-23C>T MANE Select | NP_004522.1:n.502-23C>T | |
| NM_176806.4:c.*422-23C>T MANE Plus Clinical | NP_789776.1:n.*422-23C>T |