Linked Data
dbSNP Id:
rs768930176
ExAC:
19:49477891 C / G
gnomAD v2:
19-49477891-C-G
gnomAD v4:
19-48974634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974634C>G , CM000681.2:g.48974634C>G | GRCh38 |
| NC_000019.9:g.49477891C>G , CM000681.1:g.49477891C>G | GRCh37 |
| NC_000019.8:g.54169703C>G | NCBI36 |
| NG_012923.1:g.23720G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1408G>C MANE Select | ENSP00000317904.3:p.Ala470Pro | |
| ENST00000263276.6:c.1216G>C | ENSP00000263276.6:p.Ala406Pro | |
| ENST00000323798.7:c.1408G>C | ENSP00000317904.3:p.Ala470Pro | |
| ENST00000472004.5:n.163G>C | ||
| ENST00000496048.1:n.315G>C | ||
| NM_001161587.1:c.1216G>C | NP_001155059.1:p.Ala406Pro | |
| NM_002103.4:c.1408G>C | NP_002094.2:p.Ala470Pro | |
| NR_027763.1:n.1467G>C | ||
| NM_002103.5:c.1408G>C MANE Select | NP_002094.2:p.Ala470Pro | |
| NM_001161587.2:c.1216G>C | NP_001155059.1:p.Ala406Pro | |
| NR_027763.2:n.1423G>C |