Linked Data
dbSNP Id:
rs760309344
ExAC:
5:149357783 A / T
gnomAD v2:
5-149357783-A-T
gnomAD v4:
5-149978220-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978220A>T , CM000667.2:g.149978220A>T | GRCh38 |
| NC_000005.9:g.149357783A>T , CM000667.1:g.149357783A>T | GRCh37 |
| NC_000005.8:g.149337976A>T | NCBI36 |
| NG_007147.2:g.19338A>T , LRG_684:g.19338A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.800A>T | ||
| ENST00000286298.5:c.568A>T MANE Select | ENSP00000286298.4:p.Ser190Cys | |
| ENST00000286298.4:c.568A>T | ENSP00000286298.4:p.Ser190Cys | |
| ENST00000503336.1:c.241A>T | ENSP00000426053.1:p.Ser81Cys | |
| NM_000112.3:c.568A>T , LRG_684t1:c.568A>T | NP_000103.2:p.Ser190Cys | |
| XM_017009191.2:c.568A>T | XP_016864680.1:p.Ser190Cys | |
| NM_000112.4:c.568A>T MANE Select | NP_000103.2:p.Ser190Cys |