Linked Data
ClinVar Variation Id:
347142
ClinVar RCV Id:
RCV000287494
dbSNP Id:
rs77449037
ExAC:
4:110661905 A / G
gnomAD v2:
4-110661905-A-G
gnomAD v3:
4-109740749-A-G
gnomAD v4:
4-109740749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109740749A>G , CM000666.2:g.109740749A>G | GRCh38 |
| NC_000004.11:g.110661905A>G , CM000666.1:g.110661905A>G | GRCh37 |
| NC_000004.10:g.110881354A>G | NCBI36 |
| NG_007569.1:g.66237T>C , LRG_48:g.66237T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1713+1742T>C | ||
| ENST00000695845.1:n.1712+1742T>C | ||
| ENST00000695846.1:n.1920T>C | ||
| ENST00000394634.7:c.*144T>C MANE Select | ENSP00000378130.2:n.*144T>C | |
| ENST00000394635.8:c.*144T>C | ENSP00000378131.3:n.*144T>C | |
| ENST00000645635.1:c.1534+1742T>C | ENSP00000493607.1:n.1534+1742T>C | |
| ENST00000394634.6:c.*144T>C | ENSP00000378130.2:n.*144T>C | |
| ENST00000394635.7:c.*144T>C | ENSP00000378131.3:n.*144T>C | |
| ENST00000504853.3:n.2313T>C | ||
| ENST00000512148.5:c.*144T>C | ENSP00000427438.1:n.*144T>C | |
| ENST00000618244.4:c.1101T>C | ENSP00000483416.1:p.Tyr367= | |
| NM_000204.3:c.*144T>C , LRG_48t1:c.*144T>C | NP_000195.2:n.*144T>C | |
| XM_005262975.1:c.*144T>C | XP_005263032.1:n.*144T>C | |
| XM_005262976.1:c.*144T>C | XP_005263033.1:n.*144T>C | |
| XM_006714209.1:c.*144T>C | XP_006714272.1:n.*144T>C | |
| XM_011531920.1:c.1558+1742T>C | XP_011530222.1:n.1558+1742T>C | |
| NM_000204.4:c.*144T>C | NP_000195.2:n.*144T>C | |
| NM_001318057.1:c.*144T>C | NP_001304986.1:n.*144T>C | |
| NM_001331035.1:c.*144T>C | NP_001317964.1:n.*144T>C | |
| XM_011531920.2:c.1558+1742T>C | XP_011530222.1:n.1558+1742T>C | |
| XM_017008164.2:c.1534+1742T>C | XP_016863653.1:n.1534+1742T>C | |
| XM_017008165.2:c.1513+1742T>C | XP_016863654.1:n.1513+1742T>C | |
| XM_017008166.2:c.1534+1742T>C | XP_016863655.1:n.1534+1742T>C | |
| NM_001318057.2:c.*144T>C | NP_001304986.2:n.*144T>C | |
| NM_001331035.2:c.*144T>C | NP_001317964.1:n.*144T>C | |
| NM_001375278.1:c.1558+1742T>C | NP_001362207.1:n.1558+1742T>C | |
| NM_001375279.1:c.1534+1742T>C | NP_001362208.1:n.1534+1742T>C | |
| NM_001375280.1:c.1513+1742T>C | NP_001362209.1:n.1513+1742T>C | |
| NM_001375281.1:c.1534+1742T>C | NP_001362210.1:n.1534+1742T>C | |
| NM_001375282.1:c.1513+1742T>C | NP_001362211.1:n.1513+1742T>C | |
| NM_001375283.1:c.*144T>C | NP_001362212.1:n.*144T>C | |
| NM_001375284.1:c.*144T>C | NP_001362213.1:n.*144T>C | |
| NR_164671.1:n.1643T>C | ||
| NR_164672.1:n.1946T>C | ||
| NR_164673.1:n.1920T>C | ||
| NM_000204.5:c.*144T>C MANE Select | NP_000195.3:n.*144T>C |