Linked Data
dbSNP Id:
rs774799003
ExAC:
1:98015244 G / A
gnomAD v2:
1-98015244-G-A
gnomAD v3:
1-97549688-G-A
gnomAD v4:
1-97549688-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549688G>A , CM000663.2:g.97549688G>A | GRCh38 |
| NC_000001.10:g.98015244G>A , CM000663.1:g.98015244G>A | GRCh37 |
| NC_000001.9:g.97787832G>A | NCBI36 |
| NG_008807.2:g.376372C>T , LRG_722:g.376372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1396C>T MANE Select | ENSP00000359211.3:p.Pro466Ser | |
| ENST00000370192.7:c.1396C>T | ENSP00000359211.3:p.Pro466Ser | |
| NM_000110.3:c.1396C>T , LRG_722t1:c.1396C>T | NP_000101.2:p.Pro466Ser | |
| XM_005270562.3:c.1396C>T | XP_005270619.2:p.Pro466Ser | |
| XM_006710397.2:c.1396C>T | XP_006710460.1:p.Pro466Ser | |
| XM_006710397.3:c.1396C>T | XP_006710460.1:p.Pro466Ser | |
| XM_017000507.1:c.1285C>T | XP_016855996.1:p.Pro429Ser | |
| XM_017000508.2:c.901C>T | XP_016855997.1:p.Pro301Ser | |
| XM_017000509.2:c.901C>T | XP_016855998.1:p.Pro301Ser | |
| XM_017000510.1:c.901C>T | XP_016855999.1:p.Pro301Ser | |
| NM_000110.4:c.1396C>T MANE Select | NP_000101.2:p.Pro466Ser |