Linked Data
ClinVar Variation Id:
2892726
ClinVar RCV Id:
RCV003654638
dbSNP Id:
rs1893006276
gnomAD v3:
15-66485107-C-G
gnomAD v4:
15-66485107-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485107C>G , CM000677.2:g.66485107C>G | GRCh38 |
| NC_000015.9:g.66777445C>G , CM000677.1:g.66777445C>G | GRCh37 |
| NC_000015.8:g.64564499C>G | NCBI36 |
| NG_008305.1:g.103235C>G , LRG_725:g.103235C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2121C>G | ENSP00000508681.1:n.628-2121C>G | |
| ENST00000685172.1:c.811C>G | ENSP00000509604.1:p.Leu271Val | |
| ENST00000685763.1:c.664C>G | ENSP00000509016.1:p.Leu222Val | |
| ENST00000686347.1:c.569-2121C>G | ENSP00000509027.1:n.569-2121C>G | |
| ENST00000687191.1:n.1169C>G | ||
| ENST00000687481.1:n.226C>G | ||
| ENST00000689951.1:c.862C>G | ENSP00000509308.1:p.Leu288Val | |
| ENST00000691077.1:c.*48C>G | ENSP00000509843.1:n.*48C>G | |
| ENST00000691576.1:c.682C>G | ENSP00000510066.1:p.Leu228Val | |
| ENST00000691937.1:c.811C>G | ENSP00000508768.1:p.Leu271Val | |
| ENST00000692487.1:c.*48C>G | ENSP00000509534.1:n.*48C>G | |
| ENST00000692683.1:c.745C>G | ENSP00000508437.1:p.Leu249Val | |
| ENST00000693150.1:c.667C>G | ENSP00000510309.1:p.Leu223Val | |
| ENST00000307102.10:c.811C>G MANE Select | ENSP00000302486.5:p.Leu271Val | |
| ENST00000307102.9:c.811C>G | ENSP00000302486.4:p.Leu271Val | |
| ENST00000566326.1:c.283C>G | ENSP00000456438.1:p.Leu95Val | |
| NM_002755.3:c.811C>G , LRG_725t1:c.811C>G | NP_002746.1:p.Leu271Val | |
| XM_011521783.1:c.745C>G | XP_011520085.1:p.Leu249Val | |
| XM_011521783.3:c.745C>G | XP_011520085.1:p.Leu249Val | |
| XM_017022411.2:c.733C>G | XP_016877900.1:p.Leu245Val | |
| XM_017022412.1:c.667C>G | XP_016877901.1:p.Leu223Val | |
| XM_017022413.1:c.283C>G | XP_016877902.1:p.Leu95Val | |
| NM_002755.4:c.811C>G MANE Select | NP_002746.1:p.Leu271Val |