Linked Data
dbSNP Id:
rs752486517
ExAC:
4:187115675 A / C
gnomAD v2:
4-187115675-A-C
gnomAD v4:
4-186194521-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194521A>C , CM000666.2:g.186194521A>C | GRCh38 |
| NC_000004.11:g.187115675A>C , CM000666.1:g.187115675A>C | GRCh37 |
| NC_000004.10:g.187352669A>C | NCBI36 |
| NG_007965.1:g.8002A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.236A>C MANE Select | ENSP00000368079.4:p.Glu79Ala | |
| ENST00000378802.4:c.236A>C | ENSP00000368079.4:p.Glu79Ala | |
| NM_207352.3:c.236A>C | NP_997235.3:p.Glu79Ala | |
| XM_005262935.2:c.236A>C | XP_005262992.1:p.Glu79Ala | |
| XM_005262935.4:c.236A>C | XP_005262992.1:p.Glu79Ala | |
| XM_017008037.1:c.-75A>C | XP_016863526.1:n.-75A>C | |
| NM_207352.4:c.236A>C MANE Select | NP_997235.3:p.Glu79Ala |