Linked Data
ClinVar Variation Id:
522
ClinVar RCV Id:
RCV000000551
dbSNP Id:
rs587776518
PubMed:
PMID:8900230
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128328823T>A , CM000667.2:g.128328823T>A | GRCh38 |
| NC_000005.9:g.127664515T>A , CM000667.1:g.127664515T>A | GRCh37 |
| NC_000005.8:g.127692414T>A | NCBI36 |
| NG_008750.1:g.214221A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1130-2A>T | ||
| ENST00000703785.1:n.1211-2A>T | ||
| ENST00000703786.1:n.950A>T | ||
| ENST00000262464.9:c.4346-2A>T MANE Select | ENSP00000262464.4:n.4346-2A>T | |
| ENST00000262464.8:c.4346-2A>T | ENSP00000262464.4:n.4346-2A>T | |
| ENST00000507835.5:c.896-2A>T | ENSP00000426839.1:n.896-2A>T | |
| ENST00000508053.5:c.4346-2A>T | ENSP00000424571.1:n.4346-2A>T | |
| ENST00000508989.5:c.4247-2A>T | ENSP00000425596.1:n.4247-2A>T | |
| ENST00000619499.4:c.4343-2A>T | ENSP00000482132.1:n.4343-2A>T | |
| NM_001999.3:c.4346-2A>T | NP_001990.2:n.4346-2A>T | |
| XM_017009228.2:c.4193-2A>T | XP_016864717.1:n.4193-2A>T | |
| NM_001999.4:c.4346-2A>T MANE Select | NP_001990.2:n.4346-2A>T |