Linked Data
dbSNP Id:
rs776569507
ExAC:
16:84065554 C / G
gnomAD v2:
16-84065554-C-G
gnomAD v3:
16-84031949-C-G
gnomAD v4:
16-84031949-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.84031949C>G , CM000678.2:g.84031949C>G | GRCh38 |
| NC_000016.9:g.84065554C>G , CM000678.1:g.84065554C>G | GRCh37 |
| NC_000016.8:g.82623055C>G | NCBI36 |
| NG_034136.1:g.15209G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299709.8:c.550G>C MANE Select | ENSP00000299709.3:p.Ala184Pro | |
| ENST00000299709.7:c.550G>C | ENSP00000299709.3:p.Ala184Pro | |
| ENST00000568178.1:c.550G>C | ENSP00000457737.1:p.Ala184Pro | |
| NM_001080442.2:c.550G>C | NP_001073911.1:p.Ala184Pro | |
| XM_011522872.1:c.550G>C | XP_011521174.1:p.Ala184Pro | |
| XM_017022946.1:c.550G>C | XP_016878435.1:p.Ala184Pro | |
| NM_001080442.3:c.550G>C MANE Select | NP_001073911.1:p.Ala184Pro |