Linked Data
dbSNP Id:
rs1316072808
gnomAD v2:
13-48954193-A-C
gnomAD v3:
13-48380057-A-C
gnomAD v4:
13-48380057-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380057A>C , CM000675.2:g.48380057A>C | GRCh38 |
| NC_000013.10:g.48954193A>C , CM000675.1:g.48954193A>C | GRCh37 |
| NC_000013.9:g.47852194A>C | NCBI36 |
| NG_009009.1:g.81311A>C , LRG_517:g.81311A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1394A>C MANE Select | ENSP00000267163.4:p.Glu465Ala | |
| ENST00000650461.1:c.1394A>C | ENSP00000497193.1:p.Glu465Ala | |
| ENST00000267163.4:c.1394A>C | ENSP00000267163.4:p.Glu465Ala | |
| NM_000321.2:c.1394A>C , LRG_517t1:c.1394A>C | NP_000312.2:p.Glu465Ala | |
| XM_011535171.1:c.1133A>C | XP_011533473.1:p.Glu378Ala | |
| XM_011535171.2:c.1133A>C | XP_011533473.1:p.Glu378Ala | |
| NM_000321.3:c.1394A>C MANE Select | NP_000312.2:p.Glu465Ala |