Linked Data
ClinVar Variation Id:
11436
ClinVar RCV Id:
RCV000012189
dbSNP Id:
rs104894960
PubMed:
PMID:14681828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567436C>T , CM000685.2:g.137567436C>T | GRCh38 |
| NC_000023.10:g.136649595C>T , CM000685.1:g.136649595C>T | GRCh37 |
| NC_000023.9:g.136477261C>T | NCBI36 |
| NG_008115.1:g.6250C>T | |
| NG_008115.2:g.6310C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287538.10:c.745C>T MANE Select | ENSP00000287538.5:p.Gln249Ter | |
| ENST00000287538.9:c.745C>T | ENSP00000287538.5:p.Gln249Ter | |
| ENST00000370606.3:c.745C>T | ENSP00000359638.3:p.Gln249Ter | |
| NM_003413.3:c.745C>T | NP_003404.1:p.Gln249Ter | |
| NM_001330661.1:c.745C>T | NP_001317590.1:p.Gln249Ter | |
| NM_003413.4:c.745C>T MANE Select | NP_003404.1:p.Gln249Ter |