Linked Data
ClinVar Variation Id:
134528
dbSNP Id:
rs587778405
gnomAD v3:
5-35873604-G-T
gnomAD v4:
5-35873604-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35873604G>T , CM000667.2:g.35873604G>T | GRCh38 |
| NC_000005.9:g.35873706G>T , CM000667.1:g.35873706G>T | GRCh37 |
| NC_000005.8:g.35909463G>T | NCBI36 |
| NG_009567.1:g.21716G>T , LRG_74:g.21716G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303115.8:c.662G>T MANE Select | ENSP00000306157.3:p.Ser221Ile | |
| ENST00000303115.7:c.662G>T | ENSP00000306157.3:p.Ser221Ile | |
| ENST00000505093.1:c.71G>T | ENSP00000426069.1:p.Ser24Ile | |
| ENST00000506850.5:c.662G>T | ENSP00000421207.1:p.Ser221Ile | |
| ENST00000509668.1:n.404G>T | ||
| ENST00000514217.5:c.538-1908G>T | ENSP00000427688.1:n.538-1908G>T | |
| NM_002185.3:c.662G>T | NP_002176.2:p.Ser221Ile | |
| NR_120485.1:n.641-1908G>T | ||
| XM_005248299.2:c.662G>T | XP_005248356.1:p.Ser221Ile | |
| XM_005248300.1:c.662G>T | XP_005248357.1:p.Ser221Ile | |
| XM_011514037.1:c.662G>T | XP_011512339.1:p.Ser221Ile | |
| NM_002185.4:c.662G>T | NP_002176.2:p.Ser221Ile | |
| NR_120485.2:n.667-1908G>T | ||
| XM_005248299.4:c.662G>T | XP_005248356.1:p.Ser221Ile | |
| NM_002185.5:c.662G>T MANE Select | NP_002176.2:p.Ser221Ile | |
| NR_120485.3:n.625-1908G>T |