Linked Data
ClinVar Variation Id:
161135
ClinVar RCV Id:
RCV001781487
dbSNP Id:
rs606231436
PubMed:
PMID:20301294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970536A>G , CM000681.2:g.41970536A>G | GRCh38 |
| NC_000019.9:g.42474688A>G , CM000681.1:g.42474688A>G | GRCh37 |
| NC_000019.8:g.47166528A>G | NCBI36 |
| NG_008015.1:g.28695T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.2309T>C | ENSP00000444688.1:p.Leu770Pro | |
| ENST00000644613.1:c.2270T>C | ENSP00000494711.1:p.Leu757Pro | |
| ENST00000648268.1:c.2270T>C MANE Select | ENSP00000498113.1:p.Leu757Pro | |
| ENST00000302102.9:c.2270T>C | ENSP00000302397.5:p.Leu757Pro | |
| ENST00000441343.5:c.2270T>C | ENSP00000411503.1:p.Leu757Pro | |
| ENST00000543770.5:c.2303T>C | ENSP00000437577.1:p.Leu768Pro | |
| ENST00000545399.5:c.2309T>C | ENSP00000444688.1:p.Leu770Pro | |
| ENST00000602133.5:c.2180T>C | ENSP00000471581.1:p.Leu727Pro | |
| NM_001256213.1:c.2303T>C | NP_001243142.1:p.Leu768Pro | |
| NM_001256214.1:c.2309T>C | NP_001243143.1:p.Leu770Pro | |
| NM_152296.4:c.2270T>C | NP_689509.1:p.Leu757Pro | |
| XM_011526991.1:c.2180T>C | XP_011525293.1:p.Leu727Pro | |
| NM_152296.5:c.2270T>C MANE Select | NP_689509.1:p.Leu757Pro | |
| NM_001256214.2:c.2309T>C | NP_001243143.1:p.Leu770Pro | |
| NM_001256213.2:c.2303T>C | NP_001243142.1:p.Leu768Pro |