Linked Data
dbSNP Id:
rs768397676
ExAC:
17:42457069 A / G
gnomAD v2:
17-42457069-A-G
gnomAD v3:
17-44379701-A-G
gnomAD v4:
17-44379701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44379701A>G , CM000679.2:g.44379701A>G | GRCh38 |
| NC_000017.10:g.42457069A>G , CM000679.1:g.42457069A>G | GRCh37 |
| NC_000017.9:g.39812595A>G | NCBI36 |
| NG_008331.1:g.14805T>C , LRG_479:g.14805T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1866T>C MANE Select | ENSP00000262407.5:p.His622= | |
| ENST00000648408.1:c.1297T>C | ||
| ENST00000262407.5:c.1866T>C | ENSP00000262407.5:p.His622= | |
| ENST00000592462.5:n.661T>C | ||
| NM_000419.3:c.1866T>C , LRG_479t1:c.1866T>C | NP_000410.2:p.His622= | |
| XM_011524749.1:c.1866T>C | XP_011523051.1:p.His622= | |
| XM_011524750.1:c.1866T>C | XP_011523052.1:p.His622= | |
| NM_000419.4:c.1866T>C | NP_000410.2:p.His622= | |
| NM_000419.5:c.1866T>C MANE Select | NP_000410.2:p.His622= |