Linked Data
ClinVar Variation Id:
376715
ClinVar RCV Id:
RCV000432251
dbSNP Id:
rs1057520021
COSMIC:
COSM5487444
PubMed:
PMID:16410449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034139A>G , CM000675.2:g.28034139A>G | GRCh38 |
| NC_000013.10:g.28608276A>G , CM000675.1:g.28608276A>G | GRCh37 |
| NC_000013.9:g.27506276A>G | NCBI36 |
| NG_007066.1:g.71430T>C , LRG_457:g.71430T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.1780T>C MANE Select | ENSP00000241453.7:p.Phe594Leu | |
| ENST00000241453.11:c.1780T>C | ENSP00000241453.7:p.Phe594Leu | |
| ENST00000380987.2:c.1780T>C | ENSP00000370374.2:p.Phe594Leu | |
| NM_004119.2:c.1780T>C , LRG_457t1:c.1780T>C | NP_004110.2:p.Phe594Leu | |
| NR_130706.1:n.1862T>C | ||
| XM_011535015.1:c.1723T>C | XP_011533317.1:p.Phe575Leu | |
| XM_011535016.1:c.1255T>C | XP_011533318.1:p.Phe419Leu | |
| XM_011535017.1:c.1255T>C | XP_011533319.1:p.Phe419Leu | |
| XM_011535018.1:c.1255T>C | XP_011533320.1:p.Phe419Leu | |
| XM_011535015.2:c.1723T>C | XP_011533317.1:p.Phe575Leu | |
| XM_011535017.2:c.1255T>C | XP_011533319.1:p.Phe419Leu | |
| XM_011535018.2:c.1255T>C | XP_011533320.1:p.Phe419Leu | |
| XM_017020486.1:c.1564T>C | XP_016875975.1:p.Phe522Leu | |
| XM_017020487.1:c.1255T>C | XP_016875976.1:p.Phe419Leu | |
| XM_017020488.1:c.901T>C | XP_016875977.1:p.Phe301Leu | |
| XM_017020489.1:c.883T>C | XP_016875978.1:p.Phe295Leu | |
| NM_004119.3:c.1780T>C MANE Select | NP_004110.2:p.Phe594Leu | |
| NR_130706.2:n.1846T>C |