Linked Data
ClinVar Variation Id:
1083163
ClinVar RCV Id:
RCV001399753
dbSNP Id:
rs2138335792
gnomAD v4:
13-48459689-G-T
COSMIC:
COSM5657473
MyVariant Identifiers:
chr13:g.49033825G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459689G>T , CM000675.2:g.48459689G>T | GRCh38 |
| NC_000013.10:g.49033825G>T , CM000675.1:g.49033825G>T | GRCh37 |
| NC_000013.9:g.47931826G>T | NCBI36 |
| NG_009009.1:g.160943G>T , LRG_517:g.160943G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1962G>T MANE Select | ENSP00000267163.4:p.Val654= | |
| ENST00000643064.1:c.194+78246G>T | ||
| ENST00000650461.1:c.1962G>T | ENSP00000497193.1:p.Val654= | |
| ENST00000267163.4:c.1962G>T | ENSP00000267163.4:p.Val654= | |
| NM_000321.2:c.1962G>T , LRG_517t1:c.1962G>T | NP_000312.2:p.Val654= | |
| XM_011535171.1:c.1701G>T | XP_011533473.1:p.Val567= | |
| XM_011535171.2:c.1701G>T | XP_011533473.1:p.Val567= | |
| NM_000321.3:c.1962G>T MANE Select | NP_000312.2:p.Val654= |