Linked Data
dbSNP Id:
rs372671435
ExAC:
4:41747916 C / G
gnomAD v2:
4-41747916-C-G
gnomAD v3:
4-41745899-C-G
gnomAD v4:
4-41745899-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745899C>G , CM000666.2:g.41745899C>G | GRCh38 |
| NC_000004.11:g.41747916C>G , CM000666.1:g.41747916C>G | GRCh37 |
| NC_000004.10:g.41442673C>G | NCBI36 |
| NG_008243.1:g.8072G>C , LRG_513:g.8072G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.853G>C MANE Select | ENSP00000226382.2:p.Asp285His | |
| ENST00000226382.3:c.853G>C | ENSP00000226382.2:p.Asp285His | |
| NM_003924.3:c.853G>C , LRG_513t1:c.853G>C | NP_003915.2:p.Asp285His | |
| NM_003924.4:c.853G>C MANE Select | NP_003915.2:p.Asp285His |