Linked Data
ClinVar Variation Id:
2151988
ClinVar RCV Id:
RCV003074927
dbSNP Id:
rs750018382
ExAC:
4:110667453 C / A
gnomAD v2:
4-110667453-C-A
gnomAD v3:
4-109746297-C-A
gnomAD v4:
4-109746297-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109746297C>A , CM000666.2:g.109746297C>A | GRCh38 |
| NC_000004.11:g.110667453C>A , CM000666.1:g.110667453C>A | GRCh37 |
| NC_000004.10:g.110886902C>A | NCBI36 |
| NG_007569.1:g.60689G>T , LRG_48:g.60689G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1533G>T | ||
| ENST00000695845.1:n.1532G>T | ||
| ENST00000695846.1:n.1378G>T | ||
| ENST00000394634.7:c.1354G>T MANE Select | ENSP00000378130.2:p.Ala452Ser | |
| ENST00000394635.8:c.1378G>T | ENSP00000378131.3:p.Ala460Ser | |
| ENST00000645635.1:c.1354G>T | ENSP00000493607.1:p.Ala452Ser | |
| ENST00000394634.6:c.1354G>T | ENSP00000378130.2:p.Ala452Ser | |
| ENST00000394635.7:c.1378G>T | ENSP00000378131.3:p.Ala460Ser | |
| ENST00000504853.3:n.1771G>T | ||
| ENST00000512148.5:c.1333G>T | ENSP00000427438.1:p.Ala445Ser | |
| ENST00000618244.4:c.1044+3202G>T | ENSP00000483416.1:n.1044+3202G>T | |
| NM_000204.3:c.1354G>T , LRG_48t1:c.1354G>T | NP_000195.2:p.Ala452Ser | |
| XM_005262975.1:c.1378G>T | XP_005263032.1:p.Ala460Ser | |
| XM_005262976.1:c.1333G>T | XP_005263033.1:p.Ala445Ser | |
| XM_006714209.1:c.1375G>T | XP_006714272.1:p.Ala459Ser | |
| XM_006714210.2:c.1378G>T | XP_006714273.1:p.Ala460Ser | |
| XM_011531920.1:c.1378G>T | XP_011530222.1:p.Ala460Ser | |
| NM_000204.4:c.1354G>T | NP_000195.2:p.Ala452Ser | |
| NM_001318057.1:c.1378G>T | NP_001304986.1:p.Ala460Ser | |
| NM_001331035.1:c.1333G>T | NP_001317964.1:p.Ala445Ser | |
| XM_006714210.4:c.1378G>T | XP_006714273.1:p.Ala460Ser | |
| XM_011531920.2:c.1378G>T | XP_011530222.1:p.Ala460Ser | |
| XM_017008164.2:c.1354G>T | XP_016863653.1:p.Ala452Ser | |
| XM_017008165.2:c.1333G>T | XP_016863654.1:p.Ala445Ser | |
| XM_017008166.2:c.1354G>T | XP_016863655.1:p.Ala452Ser | |
| NM_001318057.2:c.1378G>T | NP_001304986.2:p.Ala460Ser | |
| NM_001331035.2:c.1333G>T | NP_001317964.1:p.Ala445Ser | |
| NM_001375278.1:c.1378G>T | NP_001362207.1:p.Ala460Ser | |
| NM_001375279.1:c.1354G>T | NP_001362208.1:p.Ala452Ser | |
| NM_001375280.1:c.1333G>T | NP_001362209.1:p.Ala445Ser | |
| NM_001375281.1:c.1354G>T | NP_001362210.1:p.Ala452Ser | |
| NM_001375282.1:c.1333G>T | NP_001362211.1:p.Ala445Ser | |
| NM_001375283.1:c.1297G>T | NP_001362212.1:p.Ala433Ser | |
| NM_001375284.1:c.745G>T | NP_001362213.1:p.Ala249Ser | |
| NR_164671.1:n.1176+2921G>T | ||
| NR_164672.1:n.1404G>T | ||
| NR_164673.1:n.1378G>T | ||
| NM_000204.5:c.1354G>T MANE Select | NP_000195.3:p.Ala452Ser |