Linked Data
ClinVar Variation Id:
317804
dbSNP Id:
rs547624231
ExAC:
16:1402117 G / C
gnomAD v2:
16-1402117-G-C
gnomAD v3:
16-1352116-G-C
gnomAD v4:
16-1352116-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1352116G>C , CM000678.2:g.1352116G>C | GRCh38 |
| NC_000016.9:g.1402117G>C , CM000678.1:g.1402117G>C | GRCh37 |
| NC_000016.8:g.1342118G>C | NCBI36 |
| NG_016985.1:g.5218G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.87G>C | ||
| ENST00000529110.2:c.151G>C | ENSP00000435349.2:p.Gly51Arg | |
| ENST00000529957.6:n.46G>C | ||
| ENST00000683366.1:c.67G>C | ENSP00000507283.1:p.Gly23Arg | |
| ENST00000683887.1:c.67G>C | ENSP00000506886.1:p.Gly23Arg | |
| ENST00000684126.1:n.46G>C | ||
| ENST00000204679.9:c.67G>C MANE Select | ENSP00000204679.4:p.Gly23Arg | |
| ENST00000204679.8:c.67G>C | ENSP00000204679.4:p.Gly23Arg | |
| ENST00000526820.5:c.67G>C | ENSP00000434413.1:p.Gly23Arg | |
| ENST00000527137.2:c.67G>C | ENSP00000480060.1:p.Gly23Arg | |
| ENST00000527168.5:n.79G>C | ||
| ENST00000527876.5:c.67G>C | ENSP00000460728.1:p.Gly23Arg | |
| ENST00000529110.1:c.134G>C | ||
| ENST00000529957.5:n.87G>C | ||
| ENST00000534197.5:n.85G>C | ||
| NM_032520.4:c.67G>C | NP_115909.1:p.Gly23Arg | |
| XM_017023782.1:c.67G>C | XP_016879271.1:p.Gly23Arg | |
| NM_032520.5:c.67G>C MANE Select | NP_115909.1:p.Gly23Arg |