Linked Data
ClinVar Variation Id:
459641
ClinVar RCV Id:
RCV000548299
dbSNP Id:
rs759318152
ExAC:
2:31754452 G / A
gnomAD v2:
2-31754452-G-A
gnomAD v4:
2-31529382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529382G>A , CM000664.2:g.31529382G>A | GRCh38 |
| NC_000002.11:g.31754452G>A , CM000664.1:g.31754452G>A | GRCh37 |
| NC_000002.10:g.31607956G>A | NCBI36 |
| NG_008365.1:g.56590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.623C>T MANE Select | ENSP00000477587.1:p.Thr208Ile | |
| ENST00000622030.1:c.623C>T | ENSP00000477587.1:p.Thr208Ile | |
| NM_000348.3:c.623C>T | NP_000339.2:p.Thr208Ile | |
| XM_011533069.1:c.401C>T | XP_011531371.1:p.Thr134Ile | |
| XM_011533070.1:c.368C>T | XP_011531372.1:p.Thr123Ile | |
| XM_011533071.1:c.368C>T | XP_011531373.1:p.Thr123Ile | |
| XM_011533072.1:c.368C>T | XP_011531374.1:p.Thr123Ile | |
| XM_011533069.2:c.401C>T | XP_011531371.1:p.Thr134Ile | |
| XM_011533072.2:c.368C>T | XP_011531374.1:p.Thr123Ile | |
| NM_000348.4:c.623C>T MANE Select | NP_000339.2:p.Thr208Ile |