Linked Data
dbSNP Id:
rs752827790
ExAC:
19:51411908 G / T
gnomAD v2:
19-51411908-G-T
gnomAD v4:
19-50908652-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908652G>T , CM000681.2:g.50908652G>T | GRCh38 |
| NC_000019.9:g.51411908G>T , CM000681.1:g.51411908G>T | GRCh37 |
| NC_000019.8:g.56103720G>T | NCBI36 |
| NG_012154.2:g.7087C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.402C>A MANE Select | ENSP00000326159.1:p.Ser134Arg | |
| ENST00000324041.5:c.402C>A | ENSP00000326159.1:p.Ser134Arg | |
| ENST00000431178.2:c.255C>A | ENSP00000399448.2:p.Ser85Arg | |
| ENST00000593885.1:c.117C>A | ENSP00000469769.1:p.Ser39Arg | |
| ENST00000596876.1:n.321C>A | ||
| ENST00000598305.5:c.117C>A | ENSP00000469963.1:p.Ser39Arg | |
| ENST00000599865.5:n.255C>A | ||
| ENST00000602148.1:c.414C>A | ENSP00000472091.1:n.414C>A | |
| NM_001302961.1:c.117C>A | NP_001289890.1:p.Ser39Arg | |
| NM_004917.4:c.402C>A | NP_004908.4:p.Ser134Arg | |
| NR_126566.1:n.395C>A | ||
| XM_005259441.3:c.117C>A | XP_005259498.2:p.Ser39Arg | |
| XM_011527545.1:c.402C>A | XP_011525847.1:p.Ser134Arg | |
| XM_011527546.1:c.402C>A | XP_011525848.1:p.Ser134Arg | |
| XM_011527547.1:c.255C>A | XP_011525849.1:p.Ser85Arg | |
| XM_005259441.4:c.117C>A | XP_005259498.2:p.Ser39Arg | |
| XM_011527545.3:c.402C>A | XP_011525847.1:p.Ser134Arg | |
| XM_011527546.2:c.402C>A | XP_011525848.1:p.Ser134Arg | |
| NM_001302961.2:c.117C>A | NP_001289890.1:p.Ser39Arg | |
| NR_126566.2:n.395C>A | ||
| NM_004917.5:c.402C>A MANE Select | NP_004908.4:p.Ser134Arg |