Linked Data
dbSNP Id:
rs775961256
ExAC:
19:11533460 C / G
gnomAD v2:
19-11533460-C-G
gnomAD v4:
19-11422792-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422792C>G , CM000681.2:g.11422792C>G | GRCh38 |
| NC_000019.9:g.11533460C>G , CM000681.1:g.11533460C>G | GRCh37 |
| NC_000019.8:g.11394460C>G | NCBI36 |
| NG_041777.1:g.17991G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1186G>C MANE Select | ENSP00000348757.3:p.Glu396Gln | |
| ENST00000356392.8:c.1186G>C | ENSP00000348757.3:p.Glu396Gln | |
| ENST00000586836.5:c.613G>C | ENSP00000467429.1:p.Glu205Gln | |
| ENST00000591179.5:c.1006G>C | ENSP00000466800.1:p.Glu336Gln | |
| ENST00000591345.5:c.*1105G>C | ENSP00000467313.1:n.*1105G>C | |
| NM_001302453.1:c.1024G>C | NP_001289382.1:p.Glu342Gln | |
| NM_001302454.1:c.1006G>C | NP_001289383.1:p.Glu336Gln | |
| NM_145045.4:c.1186G>C | NP_659482.3:p.Glu396Gln | |
| XM_017026241.1:c.*80G>C | XP_016881730.1:n.*80G>C | |
| NM_145045.5:c.1186G>C MANE Select | NP_659482.3:p.Glu396Gln | |
| NM_001302454.2:c.1006G>C | NP_001289383.1:p.Glu336Gln |