Linked Data
dbSNP Id:
rs767990596
ExAC:
5:179260731 G / C
gnomAD v2:
5-179260731-G-C
gnomAD v4:
5-179833731-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833731G>C , CM000667.2:g.179833731G>C | GRCh38 |
| NC_000005.9:g.179260731G>C , CM000667.1:g.179260731G>C | GRCh37 |
| NC_000005.8:g.179193337G>C | NCBI36 |
| NG_011342.1:g.32344G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.1114G>C MANE Select | ENSP00000374455.4:p.Glu372Gln | |
| ENST00000360718.5:c.862G>C | ENSP00000353944.5:p.Glu288Gln | |
| ENST00000389805.8:c.1114G>C | ENSP00000374455.4:p.Glu372Gln | |
| ENST00000510187.5:c.950+504G>C | ENSP00000424477.1:n.950+504G>C | |
| NM_001142298.1:c.862G>C | NP_001135770.1:p.Glu288Gln | |
| NM_001142299.1:c.862G>C | NP_001135771.1:p.Glu288Gln | |
| NM_003900.4:c.1114G>C | NP_003891.1:p.Glu372Gln | |
| XM_017010010.1:c.862G>C | XP_016865499.1:p.Glu288Gln | |
| NM_003900.5:c.1114G>C MANE Select | NP_003891.1:p.Glu372Gln | |
| NM_001142298.2:c.862G>C | NP_001135770.1:p.Glu288Gln | |
| NM_001142299.2:c.862G>C | NP_001135771.1:p.Glu288Gln |