Linked Data
ClinVar Variation Id:
184139
ClinVar RCV Id:
RCV000163298
RCV000275161
RCV000327857
RCV000288125
RCV000384830
RCV000679757
RCV001084417
RCV001818363
dbSNP Id:
rs149926238
ExAC:
10:43601913 C / A
gnomAD v2:
10-43601913-C-A
gnomAD v3:
10-43106465-C-A
gnomAD v4:
10-43106465-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106465C>A , CM000672.2:g.43106465C>A | GRCh38 |
| NC_000010.10:g.43601913C>A , CM000672.1:g.43601913C>A | GRCh37 |
| NC_000010.9:g.42921919C>A | NCBI36 |
| NG_007489.1:g.34397C>A , LRG_518:g.34397C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1272C>A | ENSP00000480088.2:n.867+1272C>A | |
| ENST00000683007.1:n.531C>A | ||
| ENST00000340058.6:c.957C>A | ENSP00000344798.4:p.Leu319= | |
| ENST00000355710.8:c.957C>A MANE Select | ENSP00000347942.3:p.Leu319= | |
| ENST00000671844.1:c.625+3836C>A | ENSP00000500541.1:n.625+3836C>A | |
| ENST00000672389.1:c.74-4742C>A | ENSP00000500252.1:n.74-4742C>A | |
| ENST00000340058.5:c.957C>A | ENSP00000344798.4:p.Leu319= | |
| ENST00000355710.7:c.957C>A | ENSP00000347942.3:p.Leu319= | |
| ENST00000479913.1:n.552C>A | ||
| ENST00000498820.5:c.74-5634C>A | ENSP00000419080.1:n.74-5634C>A | |
| ENST00000615310.4:c.957C>A | ENSP00000480088.1:p.Leu319= | |
| NM_020630.4:c.957C>A , LRG_518t2:c.957C>A | NP_065681.1:p.Leu319= | |
| NM_020975.4:c.957C>A , LRG_518t1:c.957C>A | NP_066124.1:p.Leu319= | |
| XM_011540027.1:c.957C>A | XP_011538329.1:p.Leu319= | |
| NM_001355216.1:c.195C>A | NP_001342145.1:p.Leu65= | |
| NM_020630.5:c.957C>A | NP_065681.1:p.Leu319= | |
| NM_020975.5:c.957C>A | NP_066124.1:p.Leu319= | |
| NM_020975.6:c.957C>A MANE Select | NP_066124.1:p.Leu319= | |
| NM_020630.6:c.957C>A | NP_065681.1:p.Leu319= |