Linked Data
ClinVar Variation Id:
10233
ClinVar RCV Id:
RCV000010946
dbSNP Id:
rs137852425
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953987C>A , CM000685.2:g.154953987C>A | GRCh38 |
| NC_000023.10:g.154182262C>A , CM000685.1:g.154182262C>A | GRCh37 |
| NC_000023.9:g.153835456C>A | NCBI36 |
| NG_011403.1:g.73737G>T | |
| NG_011403.2:g.73737G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1808G>T MANE Select | ENSP00000353393.4:p.Ser603Ile | |
| ENST00000647125.1:c.*1684G>T | ENSP00000496062.1:n.*1684G>T | |
| ENST00000360256.8:c.1808G>T | ENSP00000353393.4:p.Ser603Ile | |
| NM_000132.3:c.1808G>T | NP_000123.1:p.Ser603Ile | |
| XM_011531126.1:c.1703G>T | XP_011529428.1:p.Ser568Ile | |
| NM_000132.4:c.1808G>T MANE Select | NP_000123.1:p.Ser603Ile |