Linked Data
dbSNP Id:
rs753200398
ExAC:
13:33628038 A / G
gnomAD v2:
13-33628038-A-G
gnomAD v3:
13-33053901-A-G
gnomAD v4:
13-33053901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33053901A>G , CM000675.2:g.33053901A>G | GRCh38 |
| NC_000013.10:g.33628038A>G , CM000675.1:g.33628038A>G | GRCh37 |
| NC_000013.9:g.32526038A>G | NCBI36 |
| NG_011485.1:g.42468A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.954A>G MANE Select | ENSP00000369442.3:p.Lys318= | |
| ENST00000380099.3:c.954A>G | ENSP00000369442.3:p.Lys318= | |
| ENST00000487852.1:n.962A>G | ||
| NM_004795.3:c.954A>G | NP_004786.2:p.Lys318= | |
| XM_006719895.1:c.33A>G | XP_006719958.1:p.Lys11= | |
| XM_006719895.2:c.33A>G | XP_006719958.1:p.Lys11= | |
| NM_004795.4:c.954A>G MANE Select | NP_004786.2:p.Lys318= |