Linked Data
dbSNP Id:
rs1566341602
gnomAD v3:
14-21324781-A-G
gnomAD v4:
14-21324781-A-G
MyVariant Identifiers:
chr14:g.21792940A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21324781A>G , CM000676.2:g.21324781A>G | GRCh38 |
| NC_000014.8:g.21792940A>G , CM000676.1:g.21792940A>G | GRCh37 |
| NC_000014.7:g.20862780A>G | NCBI36 |
| NG_008933.1:g.41805A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1926A>G MANE Select | ENSP00000382895.2:p.Leu642= | |
| ENST00000382933.8:c.688+2777A>G | ENSP00000372391.4:n.688+2777A>G | |
| ENST00000400017.6:c.1926A>G | ENSP00000382895.2:p.Leu642= | |
| ENST00000553500.5:n.328+56A>G | ||
| ENST00000553927.1:n.858A>G | ||
| ENST00000554303.1:c.312A>G | ENSP00000450426.1:p.Leu104= | |
| ENST00000555322.5:c.353A>G | ||
| ENST00000555489.5:c.212+56A>G | ENSP00000451044.1:n.212+56A>G | |
| ENST00000555587.5:c.351A>G | ENSP00000451262.1:p.Leu117= | |
| ENST00000556336.5:c.1681+2777A>G | ENSP00000450445.1:n.1681+2777A>G | |
| ENST00000557771.5:c.1812A>G | ENSP00000451219.1:p.Leu604= | |
| NM_020366.3:c.1926A>G | NP_065099.3:p.Leu642= | |
| XM_005267879.2:c.852A>G | XP_005267936.1:p.Leu284= | |
| XM_005267880.2:c.819A>G | XP_005267937.1:p.Leu273= | |
| XM_005267881.2:c.300A>G | XP_005267938.1:p.Leu100= | |
| XM_011536978.1:c.852A>G | XP_011535280.1:p.Leu284= | |
| XM_011536979.1:c.796+56A>G | XP_011535281.1:n.796+56A>G | |
| XM_011536980.1:c.796+56A>G | XP_011535282.1:n.796+56A>G | |
| XM_011536981.1:c.852A>G | XP_011535283.1:p.Leu284= | |
| XM_011536982.1:c.796+56A>G | XP_011535284.1:n.796+56A>G | |
| XM_011536983.1:c.1893A>G | XP_011535285.1:p.Leu631= | |
| XM_005267881.3:c.300A>G | XP_005267938.1:p.Leu100= | |
| XM_017021473.1:c.852A>G | XP_016876962.1:p.Leu284= | |
| XM_024449663.1:c.852A>G | XP_024305431.1:p.Leu284= | |
| XM_024449664.1:c.852A>G | XP_024305432.1:p.Leu284= | |
| XM_024449665.1:c.796+56A>G | XP_024305433.1:n.796+56A>G | |
| XM_024449666.1:c.796+56A>G | XP_024305434.1:n.796+56A>G | |
| NM_001377523.1:c.688+2777A>G | NP_001364452.1:n.688+2777A>G | |
| NM_001377948.1:c.852A>G | NP_001364877.1:p.Leu284= | |
| NM_001377949.1:c.796+56A>G | NP_001364878.1:n.796+56A>G | |
| NM_001377950.1:c.688+2777A>G | NP_001364879.1:n.688+2777A>G | |
| NM_001377951.1:c.190+2777A>G | NP_001364880.1:n.190+2777A>G | |
| NM_020366.4:c.1926A>G MANE Select | NP_065099.3:p.Leu642= |