Linked Data
dbSNP Id:
rs774307767
ExAC:
13:33629359 G / C
gnomAD v2:
13-33629359-G-C
gnomAD v4:
13-33055222-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055222G>C , CM000675.2:g.33055222G>C | GRCh38 |
| NC_000013.10:g.33629359G>C , CM000675.1:g.33629359G>C | GRCh37 |
| NC_000013.9:g.32527359G>C | NCBI36 |
| NG_011485.1:g.43789G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1506G>C MANE Select | ENSP00000369442.3:p.Glu502Asp | |
| ENST00000380099.3:c.1506G>C | ENSP00000369442.3:p.Glu502Asp | |
| ENST00000487852.1:n.1514G>C | ||
| NM_004795.3:c.1506G>C | NP_004786.2:p.Glu502Asp | |
| XM_006719895.1:c.585G>C | XP_006719958.1:p.Glu195Asp | |
| XM_006719895.2:c.585G>C | XP_006719958.1:p.Glu195Asp | |
| NM_004795.4:c.1506G>C MANE Select | NP_004786.2:p.Glu502Asp |