Linked Data
dbSNP Id:
rs754822415
ExAC:
2:220022236 G / T
gnomAD v2:
2-220022236-G-T
gnomAD v4:
2-219157514-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219157514G>T , CM000664.2:g.219157514G>T | GRCh38 |
| NC_000002.11:g.220022236G>T , CM000664.1:g.220022236G>T | GRCh37 |
| NC_000002.10:g.219730480G>T | NCBI36 |
| NG_007880.1:g.8352C>A , LRG_90:g.8352C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.348C>A | ENSP00000394896.2:p.Pro116= | |
| ENST00000457600.3:c.348C>A | ENSP00000407201.2:p.Pro116= | |
| ENST00000698174.1:c.348C>A | ENSP00000513594.1:p.Pro116= | |
| ENST00000698175.1:c.*95C>A | ENSP00000513595.1:n.*95C>A | |
| ENST00000698176.1:n.420C>A | ||
| ENST00000698202.1:c.348C>A | ENSP00000513605.1:p.Pro116= | |
| ENST00000698203.1:c.348C>A | ENSP00000513606.1:p.Pro116= | |
| ENST00000356853.10:c.348C>A MANE Select | ENSP00000349313.5:p.Pro116= | |
| ENST00000318673.6:c.*1470C>A | ENSP00000320919.3:n.*1470C>A | |
| ENST00000356853.9:c.348C>A | ENSP00000349313.5:p.Pro116= | |
| ENST00000409720.5:c.348C>A | ENSP00000387290.1:p.Pro116= | |
| ENST00000418099.5:c.348C>A | ENSP00000408966.1:p.Pro116= | |
| ENST00000426304.5:c.108C>A | ENSP00000394896.1:p.Pro36= | |
| ENST00000450447.1:c.*35C>A | ENSP00000408421.1:n.*35C>A | |
| ENST00000457600.2:c.348C>A | ENSP00000407201.1:p.Pro116= | |
| ENST00000498327.5:n.2536C>A | ||
| NM_024782.2:c.348C>A , LRG_90t1:c.348C>A | NP_079058.1:p.Pro116= | |
| NM_001377498.1:c.348C>A | NP_001364427.1:p.Pro116= | |
| NM_001377499.1:c.348C>A | NP_001364428.1:p.Pro116= | |
| NM_024782.3:c.348C>A MANE Select | NP_079058.1:p.Pro116= | |
| NR_165304.1:n.444C>A |