Linked Data
dbSNP Id:
rs757577630
ExAC:
4:68606230 C / G
gnomAD v2:
4-68606230-C-G
gnomAD v3:
4-67740512-C-G
gnomAD v4:
4-67740512-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740512C>G , CM000666.2:g.67740512C>G | GRCh38 |
| NC_000004.11:g.68606230C>G , CM000666.1:g.68606230C>G | GRCh37 |
| NC_000004.10:g.68288825C>G | NCBI36 |
| NG_009293.1:g.20575G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226413.5:c.955G>C MANE Select | ENSP00000226413.5:p.Asp319His | |
| ENST00000226413.4:c.955G>C | ENSP00000226413.4:p.Asp319His | |
| ENST00000420975.2:c.827G>C | ENSP00000397561.2:n.827G>C | |
| NM_000406.2:c.955G>C | NP_000397.1:p.Asp319His | |
| NM_001012763.1:c.*77G>C | NP_001012781.1:n.*77G>C | |
| NM_000406.3:c.955G>C MANE Select | NP_000397.1:p.Asp319His | |
| NM_001012763.2:c.*77G>C | NP_001012781.1:n.*77G>C |