Linked Data
ClinVar Variation Id:
13743
ClinVar RCV Id:
RCV000014750
dbSNP Id:
rs121434598
PubMed:
PMID:10487664
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46902542A>C , CM000665.2:g.46902542A>C | GRCh38 |
| NC_000003.11:g.46944032A>C , CM000665.1:g.46944032A>C | GRCh37 |
| NC_000003.10:g.46919036A>C | NCBI36 |
| NG_008864.1:g.29797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449590.6:c.1228A>C MANE Select | ENSP00000402723.1:p.Thr410Pro | |
| ENST00000313049.9:c.1228A>C | ENSP00000321999.4:p.Thr410Pro | |
| ENST00000418619.5:c.1228A>C | ENSP00000411424.1:p.Thr410Pro | |
| ENST00000427125.6:c.1228A>C | ENSP00000400977.2:p.Thr410Pro | |
| ENST00000428220.1:c.*165A>C | ENSP00000389811.1:n.*165A>C | |
| ENST00000430002.6:c.1228A>C | ENSP00000413774.2:p.Thr410Pro | |
| ENST00000449590.5:c.1228A>C | ENSP00000402723.1:p.Thr410Pro | |
| NM_000316.2:c.1228A>C | NP_000307.1:p.Thr410Pro | |
| NM_001184744.1:c.1228A>C | NP_001171673.1:p.Thr410Pro | |
| XM_005265344.2:c.1135A>C | XP_005265401.1:p.Thr379Pro | |
| XM_011533967.1:c.1267A>C | XP_011532269.1:p.Thr423Pro | |
| XM_011533968.1:c.1249A>C | XP_011532270.1:p.Thr417Pro | |
| XM_005265344.3:c.1135A>C | XP_005265401.1:p.Thr379Pro | |
| XM_011533967.3:c.1267A>C | XP_011532269.1:p.Thr423Pro | |
| XM_011533968.2:c.1249A>C | XP_011532270.1:p.Thr417Pro | |
| XM_017006932.2:c.1267A>C | XP_016862421.1:p.Thr423Pro | |
| XM_017006933.1:c.1228A>C | XP_016862422.1:p.Thr410Pro | |
| XM_017006934.1:c.1263A>C | XP_016862423.1:p.Pro421= | |
| NM_000316.3:c.1228A>C MANE Select | NP_000307.1:p.Thr410Pro |