Linked Data
dbSNP Id:
rs201991156
ExAC:
16:15844182 C / G
gnomAD v2:
16-15844182-C-G
gnomAD v4:
16-15750325-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15750325C>G , CM000678.2:g.15750325C>G | GRCh38 |
| NC_000016.9:g.15844182C>G , CM000678.1:g.15844182C>G | GRCh37 |
| NC_000016.8:g.15751683C>G | NCBI36 |
| NG_009299.1:g.111706G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.1871G>C MANE Select | ENSP00000300036.5:p.Arg624Pro | |
| ENST00000452625.7:c.1892G>C MANE Plus Clinical | ENSP00000407821.2:p.Arg631Pro | |
| ENST00000576790.7:c.1871G>C | ENSP00000458731.1:p.Arg624Pro | |
| ENST00000652121.1:c.*54G>C | ENSP00000498314.1:n.*54G>C | |
| ENST00000300036.5:c.1871G>C | ENSP00000300036.5:p.Arg624Pro | |
| ENST00000396324.7:c.1892G>C | ENSP00000379616.3:p.Arg631Pro | |
| ENST00000452625.6:c.1892G>C | ENSP00000407821.2:p.Arg631Pro | |
| ENST00000570785.1:n.2293G>C | ||
| ENST00000576790.6:c.1871G>C | ENSP00000458731.1:p.Arg624Pro | |
| ENST00000616439.4:c.1892G>C | ENSP00000484924.1:p.Arg631Pro | |
| NM_001040113.1:c.1892G>C | NP_001035202.1:p.Arg631Pro | |
| NM_001040114.1:c.1892G>C | NP_001035203.1:p.Arg631Pro | |
| NM_002474.2:c.1871G>C | NP_002465.1:p.Arg624Pro | |
| NM_022844.2:c.1871G>C | NP_074035.1:p.Arg624Pro | |
| XM_011522502.1:c.1871G>C | XP_011520804.1:p.Arg624Pro | |
| XM_011522502.2:c.1871G>C | XP_011520804.1:p.Arg624Pro | |
| XM_017023250.1:c.1892G>C | XP_016878739.1:p.Arg631Pro | |
| NM_002474.3:c.1871G>C MANE Select | NP_002465.1:p.Arg624Pro | |
| NM_001040113.2:c.1892G>C MANE Plus Clinical | NP_001035202.1:p.Arg631Pro | |
| NM_001040114.2:c.1892G>C | NP_001035203.1:p.Arg631Pro | |
| NM_022844.3:c.1871G>C | NP_074035.1:p.Arg624Pro |