Linked Data
dbSNP Id:
rs749886561
ExAC:
19:7998843 G / C
gnomAD v2:
19-7998843-G-C
gnomAD v4:
19-7933958-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933958G>C , CM000681.2:g.7933958G>C | GRCh38 |
| NC_000019.9:g.7998843G>C , CM000681.1:g.7998843G>C | GRCh37 |
| NC_000019.8:g.7904843G>C | NCBI36 |
| NG_051180.1:g.14866C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.589C>G MANE Select | ENSP00000270538.2:p.Gln197Glu | |
| ENST00000270538.7:c.589C>G | ENSP00000270538.2:p.Gln197Glu | |
| ENST00000595831.5:c.576C>G | ||
| ENST00000595876.5:c.*277C>G | ENSP00000471596.1:n.*277C>G | |
| ENST00000597926.1:c.493C>G | ENSP00000469389.1:p.Gln165Glu | |
| ENST00000600748.5:n.574C>G | ||
| NM_006351.3:c.589C>G | NP_006342.2:p.Gln197Glu | |
| NM_006351.4:c.589C>G MANE Select | NP_006342.2:p.Gln197Glu |