Linked Data
dbSNP Id:
rs140808248
ExAC:
19:10741957 G / C
gnomAD v2:
19-10741957-G-C
gnomAD v3:
19-10631281-G-C
gnomAD v4:
19-10631281-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10631281G>C , CM000681.2:g.10631281G>C | GRCh38 |
| NC_000019.9:g.10741957G>C , CM000681.1:g.10741957G>C | GRCh37 |
| NC_000019.8:g.10602957G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335757.10:c.337G>C MANE Select | ENSP00000336888.4:p.Val113Leu | |
| ENST00000335757.9:c.337G>C | ENSP00000336888.4:p.Val113Leu | |
| ENST00000407327.8:c.331G>C | ENSP00000385135.3:p.Val111Leu | |
| ENST00000586078.5:c.337G>C | ENSP00000466664.1:p.Val113Leu | |
| ENST00000588409.1:c.245+3277G>C | ENSP00000468070.1:n.245+3277G>C | |
| ENST00000588465.5:n.246G>C | ||
| ENST00000588688.5:c.178G>C | ENSP00000467552.1:p.Val60Leu | |
| ENST00000590382.5:c.172G>C | ENSP00000468691.1:p.Val58Leu | |
| ENST00000590857.5:c.-213G>C | ENSP00000465547.1:n.-213G>C | |
| ENST00000592293.5:c.*134G>C | ENSP00000466612.1:n.*134G>C | |
| NM_001145056.1:c.331G>C | NP_001138528.1:p.Val111Leu | |
| NM_020428.3:c.337G>C | NP_065161.3:p.Val113Leu | |
| XM_005259997.1:c.337G>C | XP_005260054.1:p.Val113Leu | |
| XM_005259999.1:c.331G>C | XP_005260056.1:p.Val111Leu | |
| NM_001363611.1:c.337G>C | NP_001350540.1:p.Val113Leu | |
| XM_005259999.2:c.331G>C | XP_005260056.1:p.Val111Leu | |
| NM_020428.4:c.337G>C MANE Select | NP_065161.3:p.Val113Leu | |
| NM_001145056.2:c.331G>C | NP_001138528.1:p.Val111Leu | |
| NM_001363611.2:c.337G>C | NP_001350540.1:p.Val113Leu |