Linked Data
ClinVar Variation Id:
12121
dbSNP Id:
rs121964913
ExAC:
4:110667387 G / A
gnomAD v2:
4-110667387-G-A
gnomAD v3:
4-109746231-G-A
gnomAD v4:
4-109746231-G-A
COSMIC:
COSM3781901
PubMed:
PMID:15173250
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109746231G>A , CM000666.2:g.109746231G>A | GRCh38 |
| NC_000004.11:g.110667387G>A , CM000666.1:g.110667387G>A | GRCh37 |
| NC_000004.10:g.110886836G>A | NCBI36 |
| NG_007569.1:g.60755C>T , LRG_48:g.60755C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695844.1:n.1599C>T | ||
| ENST00000695845.1:n.1598C>T | ||
| ENST00000695846.1:n.1444C>T | ||
| ENST00000394634.7:c.1420C>T MANE Select | ENSP00000378130.2:p.Arg474Ter | |
| ENST00000394635.8:c.1444C>T | ENSP00000378131.3:p.Arg482Ter | |
| ENST00000645635.1:c.1420C>T | ENSP00000493607.1:p.Arg474Ter | |
| ENST00000394634.6:c.1420C>T | ENSP00000378130.2:p.Arg474Ter | |
| ENST00000394635.7:c.1444C>T | ENSP00000378131.3:p.Arg482Ter | |
| ENST00000504853.3:n.1837C>T | ||
| ENST00000512148.5:c.1399C>T | ENSP00000427438.1:p.Arg467Ter | |
| ENST00000515512.1:n.62C>T | ||
| ENST00000618244.4:c.1044+3268C>T | ENSP00000483416.1:n.1044+3268C>T | |
| NM_000204.3:c.1420C>T , LRG_48t1:c.1420C>T | NP_000195.2:p.Arg474Ter | |
| XM_005262975.1:c.1444C>T | XP_005263032.1:p.Arg482Ter | |
| XM_005262976.1:c.1399C>T | XP_005263033.1:p.Arg467Ter | |
| XM_006714209.1:c.1441C>T | XP_006714272.1:p.Arg481Ter | |
| XM_006714210.2:c.1444C>T | XP_006714273.1:p.Arg482Ter | |
| XM_011531920.1:c.1444C>T | XP_011530222.1:p.Arg482Ter | |
| NM_000204.4:c.1420C>T | NP_000195.2:p.Arg474Ter | |
| NM_001318057.1:c.1444C>T | NP_001304986.1:p.Arg482Ter | |
| NM_001331035.1:c.1399C>T | NP_001317964.1:p.Arg467Ter | |
| XM_006714210.4:c.1444C>T | XP_006714273.1:p.Arg482Ter | |
| XM_011531920.2:c.1444C>T | XP_011530222.1:p.Arg482Ter | |
| XM_017008164.2:c.1420C>T | XP_016863653.1:p.Arg474Ter | |
| XM_017008165.2:c.1399C>T | XP_016863654.1:p.Arg467Ter | |
| XM_017008166.2:c.1420C>T | XP_016863655.1:p.Arg474Ter | |
| NM_001318057.2:c.1444C>T | NP_001304986.2:p.Arg482Ter | |
| NM_001331035.2:c.1399C>T | NP_001317964.1:p.Arg467Ter | |
| NM_001375278.1:c.1444C>T | NP_001362207.1:p.Arg482Ter | |
| NM_001375279.1:c.1420C>T | NP_001362208.1:p.Arg474Ter | |
| NM_001375280.1:c.1399C>T | NP_001362209.1:p.Arg467Ter | |
| NM_001375281.1:c.1420C>T | NP_001362210.1:p.Arg474Ter | |
| NM_001375282.1:c.1399C>T | NP_001362211.1:p.Arg467Ter | |
| NM_001375283.1:c.1363C>T | NP_001362212.1:p.Arg455Ter | |
| NM_001375284.1:c.811C>T | NP_001362213.1:p.Arg271Ter | |
| NR_164671.1:n.1176+2987C>T | ||
| NR_164672.1:n.1470C>T | ||
| NR_164673.1:n.1444C>T | ||
| NM_000204.5:c.1420C>T MANE Select | NP_000195.3:p.Arg474Ter |