Linked Data
ClinVar Variation Id:
5575
ClinVar RCV Id:
RCV000005917
dbSNP Id:
rs121908433
PubMed:
PMID:11112658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.115418413T>G , CM000670.2:g.115418413T>G | GRCh38 |
| NC_000008.10:g.116430641T>G , CM000670.1:g.116430641T>G | GRCh37 |
| NC_000008.9:g.116499817T>G | NCBI36 |
| NG_012383.3:g.255589A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395715.8:c.2740A>C MANE Select | ENSP00000379065.3:p.Thr914Pro | |
| ENST00000640765.1:c.2701A>C | ENSP00000492037.1:p.Thr901Pro | |
| ENST00000220888.9:c.2701A>C | ENSP00000220888.5:p.Thr901Pro | |
| ENST00000395715.7:c.2740A>C | ENSP00000379065.3:p.Thr914Pro | |
| ENST00000518018.1:c.74A>C | ||
| ENST00000519076.5:c.1963A>C | ENSP00000428910.1:p.Thr655Pro | |
| ENST00000520276.5:c.2713A>C | ENSP00000428680.1:p.Thr905Pro | |
| NM_001282902.2:c.2713A>C | NP_001269831.1:p.Thr905Pro | |
| NM_001282903.2:c.2719A>C | NP_001269832.1:p.Thr907Pro | |
| NM_014112.4:c.2740A>C | NP_054831.2:p.Thr914Pro | |
| XM_005251049.2:c.2701A>C | XP_005251106.1:p.Thr901Pro | |
| XM_006716625.1:c.2740A>C | XP_006716688.1:p.Thr914Pro | |
| XM_011517264.1:c.2740A>C | XP_011515566.1:p.Thr914Pro | |
| XM_011517265.1:c.2740A>C | XP_011515567.1:p.Thr914Pro | |
| XM_011517266.1:c.2740A>C | XP_011515568.1:p.Thr914Pro | |
| XM_011517267.1:c.2719A>C | XP_011515569.1:p.Thr907Pro | |
| XM_011517268.1:c.2701A>C | XP_011515570.1:p.Thr901Pro | |
| NM_001330599.1:c.2701A>C | NP_001317528.1:p.Thr901Pro | |
| XM_011517264.2:c.2740A>C | XP_011515566.1:p.Thr914Pro | |
| XM_011517266.3:c.2740A>C | XP_011515568.1:p.Thr914Pro | |
| XM_011517268.2:c.2701A>C | XP_011515570.1:p.Thr901Pro | |
| NM_001282902.3:c.2713A>C | NP_001269831.1:p.Thr905Pro | |
| NM_001282903.3:c.2719A>C | NP_001269832.1:p.Thr907Pro | |
| NM_001330599.2:c.2701A>C | NP_001317528.1:p.Thr901Pro | |
| NM_014112.5:c.2740A>C MANE Select | NP_054831.2:p.Thr914Pro |