Linked Data
ClinVar Variation Id:
2780163
ClinVar RCV Id:
RCV003633790
MyVariant Identifiers:
chr13:g.48523637A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47949502A>T , CM000675.2:g.47949502A>T | GRCh38 |
| NC_000013.10:g.48523637A>T , CM000675.1:g.48523637A>T | GRCh37 |
| NC_000013.9:g.47421638A>T | NCBI36 |
| NG_008241.1:g.56826T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634878.2:c.722T>A | ||
| ENST00000642944.1:c.1035T>A | ENSP00000495674.1:p.Pro345= | |
| ENST00000643023.1:c.1272T>A | ENSP00000495664.1:p.Pro424= | |
| ENST00000643584.1:c.1209T>A | ENSP00000494987.1:p.Pro403= | |
| ENST00000646804.1:c.1035T>A | ENSP00000493977.1:p.Pro345= | |
| ENST00000646932.1:c.1209T>A MANE Select | ENSP00000494360.1:p.Pro403= | |
| ENST00000647361.1:c.*1002T>A | ENSP00000494607.1:n.*1002T>A | |
| ENST00000378654.8:c.1209T>A | ENSP00000367923.3:p.Pro403= | |
| ENST00000467222.1:n.517T>A | ||
| ENST00000493152.6:c.60T>A | ENSP00000489055.1:p.Pro20= | |
| ENST00000634878.1:c.722T>A | ||
| NM_003850.2:c.1209T>A | NP_003841.1:p.Pro403= | |
| XM_011535292.1:c.972T>A | XP_011533594.1:p.Pro324= | |
| XM_011535293.1:c.807T>A | XP_011533595.1:p.Pro269= | |
| NM_003850.3:c.1209T>A MANE Select | NP_003841.1:p.Pro403= |