Linked Data
ClinVar Variation Id:
461614
dbSNP Id:
rs771793763
ExAC:
16:4848162 C / G
gnomAD v2:
16-4848162-C-G
gnomAD v3:
16-4798161-C-G
gnomAD v4:
16-4798161-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798161C>G , CM000678.2:g.4798161C>G | GRCh38 |
| NC_000016.9:g.4848162C>G , CM000678.1:g.4848162C>G | GRCh37 |
| NC_000016.8:g.4788163C>G | NCBI36 |
| NG_032174.1:g.9790G>C , LRG_455:g.9790G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.555G>C MANE Select | ENSP00000322832.6:p.Pro185= | |
| ENST00000322048.11:c.555G>C | ENSP00000322832.5:p.Pro185= | |
| ENST00000586153.1:c.201G>C | ENSP00000464699.1:p.Pro67= | |
| ENST00000586336.5:n.654G>C | ||
| ENST00000586504.5:c.335G>C | ||
| ENST00000587377.5:c.568G>C | ENSP00000468343.1:p.Val190Leu | |
| ENST00000587711.5:c.240G>C | ENSP00000467459.1:p.Pro80= | |
| ENST00000587843.5:c.*293G>C | ENSP00000465970.1:n.*293G>C | |
| ENST00000588201.5:c.*546G>C | ENSP00000466529.1:n.*546G>C | |
| ENST00000589543.5:n.512G>C | ||
| ENST00000591292.5:n.1884G>C | ||
| ENST00000591392.5:c.483G>C | ENSP00000467509.1:p.Pro161= | |
| ENST00000592019.1:c.77-346G>C | ||
| NM_024589.2:c.555G>C , LRG_455t1:c.555G>C | NP_078865.1:p.Pro185= | |
| NR_046480.1:n.879G>C | ||
| XM_006720947.2:c.555G>C | XP_006721010.1:p.Pro185= | |
| XM_006720948.2:c.285G>C | XP_006721011.1:p.Pro95= | |
| XM_006720947.4:c.555G>C | XP_006721010.1:p.Pro185= | |
| XM_006720948.4:c.285G>C | XP_006721011.1:p.Pro95= | |
| NM_024589.3:c.555G>C MANE Select | NP_078865.1:p.Pro185= | |
| NR_046480.2:n.562G>C |