Linked Data
ClinVar Variation Id:
16519
ClinVar RCV Id:
RCV000017983
dbSNP Id:
rs121913075
gnomAD v4:
1-197055720-C-A
PubMed:
PMID:8324218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197055720C>A , CM000663.2:g.197055720C>A | GRCh38 |
| NC_000001.10:g.197024850C>A , CM000663.1:g.197024850C>A | GRCh37 |
| NC_000001.9:g.195291473C>A | NCBI36 |
| NG_012065.1:g.16548G>T , LRG_550:g.16548G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367412.2:c.1349G>T MANE Select | ENSP00000356382.2:p.Cys450Phe | |
| ENST00000649282.1:c.104G>T | ENSP00000497116.1:p.Cys35Phe | |
| ENST00000367412.1:c.1349G>T | ENSP00000356382.1:p.Cys450Phe | |
| NM_001994.2:c.1349G>T , LRG_550t1:c.1349G>T | NP_001985.2:p.Cys450Phe | |
| XM_011509283.1:c.1349G>T | XP_011507585.1:p.Cys450Phe | |
| XM_011509284.1:c.1346G>T | XP_011507586.1:p.Cys449Phe | |
| XM_011509285.1:c.1253G>T | XP_011507587.1:p.Cys418Phe | |
| XM_011509286.1:c.1205G>T | XP_011507588.1:p.Cys402Phe | |
| XM_011509283.2:c.1349G>T | XP_011507585.1:p.Cys450Phe | |
| XM_011509284.2:c.1346G>T | XP_011507586.1:p.Cys449Phe | |
| XM_011509286.2:c.1205G>T | XP_011507588.1:p.Cys402Phe | |
| NM_001994.3:c.1349G>T MANE Select | NP_001985.2:p.Cys450Phe |