Linked Data
dbSNP Id:
rs1302314516
gnomAD v2:
5-149357849-T-A
gnomAD v3:
5-149978286-T-A
gnomAD v4:
5-149978286-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978286T>A , CM000667.2:g.149978286T>A | GRCh38 |
| NC_000005.9:g.149357849T>A , CM000667.1:g.149357849T>A | GRCh37 |
| NC_000005.8:g.149338042T>A | NCBI36 |
| NG_007147.2:g.19404T>A , LRG_684:g.19404T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.866T>A | ||
| ENST00000286298.5:c.634T>A MANE Select | ENSP00000286298.4:p.Cys212Ser | |
| ENST00000286298.4:c.634T>A | ENSP00000286298.4:p.Cys212Ser | |
| ENST00000503336.1:c.307T>A | ENSP00000426053.1:p.Cys103Ser | |
| NM_000112.3:c.634T>A , LRG_684t1:c.634T>A | NP_000103.2:p.Cys212Ser | |
| XM_017009191.2:c.634T>A | XP_016864680.1:p.Cys212Ser | |
| NM_000112.4:c.634T>A MANE Select | NP_000103.2:p.Cys212Ser |