Linked Data
dbSNP Id:
rs746935137
ExAC:
12:6131086 G / C
gnomAD v2:
12-6131086-G-C
gnomAD v4:
12-6021920-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6021920G>C , CM000674.2:g.6021920G>C | GRCh38 |
| NC_000012.11:g.6131086G>C , CM000674.1:g.6131086G>C | GRCh37 |
| NC_000012.10:g.6001347G>C | NCBI36 |
| NG_009072.1:g.107751C>G | |
| NG_009072.2:g.107751C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3654C>G MANE Select | ENSP00000261405.5:p.Asp1218Glu | |
| ENST00000261405.9:c.3654C>G | ENSP00000261405.5:p.Asp1218Glu | |
| ENST00000538635.5:n.421-27986C>G | ||
| ENST00000539641.1:n.7C>G | ||
| NM_000552.3:c.3654C>G | NP_000543.2:p.Asp1218Glu | |
| NM_000552.4:c.3654C>G | NP_000543.2:p.Asp1218Glu | |
| NM_000552.5:c.3654C>G MANE Select | NP_000543.3:p.Asp1218Glu |