Linked Data
dbSNP Id:
rs1416004924
gnomAD v2:
1-47398509-C-A
gnomAD v3:
1-46932837-C-A
gnomAD v4:
1-46932837-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932837C>A , CM000663.2:g.46932837C>A | GRCh38 |
| NC_000001.10:g.47398509C>A , CM000663.1:g.47398509C>A | GRCh37 |
| NC_000001.9:g.47171096C>A | NCBI36 |
| NG_007932.1:g.13648G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310638.9:c.1288G>T MANE Select | ENSP00000311095.4:p.Val430Leu | |
| ENST00000310638.8:c.1288G>T | ENSP00000311095.4:p.Val430Leu | |
| ENST00000371904.8:c.1291G>T | ENSP00000360971.4:p.Val431Leu | |
| ENST00000371905.1:c.1288G>T | ENSP00000360972.1:p.Val430Leu | |
| ENST00000462347.5:c.994G>T | ENSP00000477495.1:p.Val332Leu | |
| ENST00000465874.5:c.*86G>T | ENSP00000476368.1:n.*86G>T | |
| ENST00000468629.5:c.1127G>T | ENSP00000476619.1:p.Gly376Val | |
| ENST00000474458.5:c.743G>T | ENSP00000476988.1:p.Ser248Ile | |
| ENST00000475477.5:c.*82G>T | ENSP00000476854.1:n.*82G>T | |
| NM_000778.3:c.1288G>T | NP_000769.2:p.Val430Leu | |
| XM_005270539.1:c.994G>T | XP_005270596.1:p.Val332Leu | |
| XM_011540826.1:c.1306G>T | XP_011539128.1:p.Val436Leu | |
| XM_011540827.1:c.1012G>T | XP_011539129.1:p.Val338Leu | |
| XM_011540828.1:c.994G>T | XP_011539130.1:p.Val332Leu | |
| XR_246241.1:n.1192G>T | ||
| XR_246242.1:n.1176G>T | ||
| NM_001319155.1:c.1192G>T | NP_001306084.1:p.Val398Leu | |
| NM_001363587.1:c.994G>T | NP_001350516.1:p.Val332Leu | |
| NR_134988.1:n.993G>T | ||
| NR_134989.1:n.1184G>T | ||
| NR_134990.1:n.1178G>T | ||
| NR_134991.1:n.1165G>T | ||
| NR_134992.1:n.794G>T | ||
| NR_134993.1:n.928G>T | ||
| NR_134994.1:n.1200G>T | ||
| XM_017000465.1:c.976G>T | XP_016855954.1:p.Val326Leu | |
| XR_001737005.1:n.1266G>T | ||
| NM_000778.4:c.1288G>T MANE Select | NP_000769.2:p.Val430Leu | |
| NM_001319155.2:c.1192G>T | NP_001306084.1:p.Val398Leu | |
| NM_001363587.2:c.994G>T | NP_001350516.1:p.Val332Leu | |
| NR_134988.2:n.985G>T | ||
| NR_134989.2:n.1176G>T | ||
| NR_134990.2:n.1170G>T | ||
| NR_134991.2:n.1157G>T | ||
| NR_134992.2:n.786G>T | ||
| NR_134993.2:n.920G>T | ||
| NR_134994.2:n.1192G>T |