Linked Data
ClinVar Variation Id:
867141
ClinVar RCV Id:
RCV001075702
dbSNP Id:
rs1454437229
gnomAD v2:
14-21792923-C-G
gnomAD v4:
14-21324764-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324764C>G , CM000676.2:g.21324764C>G | GRCh38 |
| NC_000014.8:g.21792923C>G , CM000676.1:g.21792923C>G | GRCh37 |
| NC_000014.7:g.20862763C>G | NCBI36 |
| NG_008933.1:g.41788C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1909C>G MANE Select | ENSP00000382895.2:p.Leu637Val | |
| ENST00000382933.8:c.688+2760C>G | ENSP00000372391.4:n.688+2760C>G | |
| ENST00000400017.6:c.1909C>G | ENSP00000382895.2:p.Leu637Val | |
| ENST00000553500.5:n.328+39C>G | ||
| ENST00000553927.1:n.841C>G | ||
| ENST00000554303.1:c.295C>G | ENSP00000450426.1:p.Leu99Val | |
| ENST00000555322.5:c.336C>G | ||
| ENST00000555489.5:c.212+39C>G | ENSP00000451044.1:n.212+39C>G | |
| ENST00000555587.5:c.334C>G | ENSP00000451262.1:p.Leu112Val | |
| ENST00000556336.5:c.1681+2760C>G | ENSP00000450445.1:n.1681+2760C>G | |
| ENST00000557771.5:c.1795C>G | ENSP00000451219.1:p.Leu599Val | |
| NM_020366.3:c.1909C>G | NP_065099.3:p.Leu637Val | |
| XM_005267879.2:c.835C>G | XP_005267936.1:p.Leu279Val | |
| XM_005267880.2:c.802C>G | XP_005267937.1:p.Leu268Val | |
| XM_005267881.2:c.283C>G | XP_005267938.1:p.Leu95Val | |
| XM_011536978.1:c.835C>G | XP_011535280.1:p.Leu279Val | |
| XM_011536979.1:c.796+39C>G | XP_011535281.1:n.796+39C>G | |
| XM_011536980.1:c.796+39C>G | XP_011535282.1:n.796+39C>G | |
| XM_011536981.1:c.835C>G | XP_011535283.1:p.Leu279Val | |
| XM_011536982.1:c.796+39C>G | XP_011535284.1:n.796+39C>G | |
| XM_011536983.1:c.1876C>G | XP_011535285.1:p.Leu626Val | |
| XM_005267881.3:c.283C>G | XP_005267938.1:p.Leu95Val | |
| XM_017021473.1:c.835C>G | XP_016876962.1:p.Leu279Val | |
| XM_024449663.1:c.835C>G | XP_024305431.1:p.Leu279Val | |
| XM_024449664.1:c.835C>G | XP_024305432.1:p.Leu279Val | |
| XM_024449665.1:c.796+39C>G | XP_024305433.1:n.796+39C>G | |
| XM_024449666.1:c.796+39C>G | XP_024305434.1:n.796+39C>G | |
| NM_001377523.1:c.688+2760C>G | NP_001364452.1:n.688+2760C>G | |
| NM_001377948.1:c.835C>G | NP_001364877.1:p.Leu279Val | |
| NM_001377949.1:c.796+39C>G | NP_001364878.1:n.796+39C>G | |
| NM_001377950.1:c.688+2760C>G | NP_001364879.1:n.688+2760C>G | |
| NM_001377951.1:c.190+2760C>G | NP_001364880.1:n.190+2760C>G | |
| NM_020366.4:c.1909C>G MANE Select | NP_065099.3:p.Leu637Val |