Linked Data
ClinVar Variation Id:
635397
ClinVar RCV Id:
RCV000786846
dbSNP Id:
rs1593538236
MutSpliceDB:
CA658760346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48463840G>T , CM000675.2:g.48463840G>T | GRCh38 |
| NC_000013.10:g.49037976G>T , CM000675.1:g.49037976G>T | GRCh37 |
| NC_000013.9:g.47935977G>T | NCBI36 |
| NG_009009.1:g.165094G>T , LRG_517:g.165094G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2211+5G>T MANE Select | ENSP00000267163.4:n.2211+5G>T | |
| ENST00000643064.1:c.194+82397G>T | ||
| ENST00000650461.1:c.2211+5G>T | ENSP00000497193.1:n.2211+5G>T | |
| ENST00000267163.4:c.2211+5G>T | ENSP00000267163.4:n.2211+5G>T | |
| NM_000321.2:c.2211+5G>T , LRG_517t1:c.2211+5G>T | NP_000312.2:n.2211+5G>T | |
| XM_011535171.1:c.1950+5G>T | XP_011533473.1:n.1950+5G>T | |
| XM_011535171.2:c.1950+5G>T | XP_011533473.1:n.1950+5G>T | |
| NM_000321.3:c.2211+5G>T MANE Select | NP_000312.2:n.2211+5G>T |