Linked Data
ClinVar Variation Id:
1341928
ClinVar RCV Id:
RCV001837408
dbSNP Id:
rs758226459
gnomAD v2:
9-109690445-C-G
gnomAD v4:
9-106928164-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.106928164C>G , CM000671.2:g.106928164C>G | GRCh38 |
| NC_000009.11:g.109690445C>G , CM000671.1:g.109690445C>G | GRCh37 |
| NC_000009.10:g.108730266C>G | NCBI36 |
| NG_052913.1:g.70068C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277225.10:c.4252C>G MANE Select | ENSP00000277225.5:p.Leu1418Val | |
| ENST00000277225.9:c.4252C>G | ENSP00000277225.5:p.Leu1418Val | |
| ENST00000374686.6:c.901C>G | ENSP00000363818.2:p.Leu301Val | |
| ENST00000441147.6:c.787C>G | ENSP00000397306.2:p.Leu263Val | |
| ENST00000472574.1:c.281-2361C>G | ENSP00000476222.1:n.281-2361C>G | |
| ENST00000480607.5:n.240+1000C>G | ||
| NM_021224.4:c.4252C>G | NP_067047.4:p.Leu1418Val | |
| XM_006717209.2:c.4252C>G | XP_006717272.1:p.Leu1418Val | |
| XM_006717210.2:c.4252C>G | XP_006717273.1:p.Leu1418Val | |
| XM_006717211.2:c.4252C>G | XP_006717274.1:p.Leu1418Val | |
| XM_006717212.2:c.4252C>G | XP_006717275.1:p.Leu1418Val | |
| XM_006717215.2:c.4252C>G | XP_006717278.1:p.Leu1418Val | |
| XM_006717216.2:c.4252C>G | XP_006717279.1:p.Leu1418Val | |
| XM_006717218.2:c.3252+1000C>G | XP_006717281.1:n.3252+1000C>G | |
| XM_011518892.1:c.4252C>G | XP_011517194.1:p.Leu1418Val | |
| NM_001347997.1:c.3252+1000C>G | NP_001334926.1:n.3252+1000C>G | |
| NM_021224.5:c.4252C>G | NP_067047.4:p.Leu1418Val | |
| XM_006717209.4:c.4252C>G | XP_006717272.1:p.Leu1418Val | |
| XM_006717211.4:c.4252C>G | XP_006717274.1:p.Leu1418Val | |
| XM_006717212.4:c.4252C>G | XP_006717275.1:p.Leu1418Val | |
| XM_006717215.4:c.4252C>G | XP_006717278.1:p.Leu1418Val | |
| XM_006717216.4:c.4252C>G | XP_006717279.1:p.Leu1418Val | |
| XM_006717218.4:c.3252+1000C>G | XP_006717281.1:n.3252+1000C>G | |
| XM_017014996.2:c.4252C>G | XP_016870485.1:p.Leu1418Val | |
| XM_017014997.2:c.4252C>G | XP_016870486.1:p.Leu1418Val | |
| XM_017014998.2:c.3252+1000C>G | XP_016870487.1:n.3252+1000C>G | |
| XM_024447629.1:c.4252C>G | XP_024303397.1:p.Leu1418Val | |
| NM_021224.6:c.4252C>G MANE Select | NP_067047.4:p.Leu1418Val | |
| NM_001347997.2:c.3252+1000C>G | NP_001334926.1:n.3252+1000C>G |