Linked Data
dbSNP Id:
rs751822039
ExAC:
18:13884665 C / G
gnomAD v2:
18-13884665-C-G
gnomAD v3:
18-13884666-C-G
gnomAD v4:
18-13884666-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884666C>G , CM000680.2:g.13884666C>G | GRCh38 |
| NC_000018.9:g.13884665C>G , CM000680.1:g.13884665C>G | GRCh37 |
| NC_000018.8:g.13874665C>G | NCBI36 |
| NG_011819.1:g.35871G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.853G>C MANE Select | ENSP00000333821.2:p.Asp285His | |
| ENST00000327606.3:c.853G>C | ENSP00000333821.2:p.Asp285His | |
| NM_000529.2:c.853G>C MANE Select | NP_000520.1:p.Asp285His | |
| NM_001291911.1:c.853G>C | NP_001278840.1:p.Asp285His | |
| XM_017025781.1:c.853G>C | XP_016881270.1:p.Asp285His |