Linked Data
dbSNP Id:
rs934646098
gnomAD v2:
4-110661885-C-G
gnomAD v3:
4-109740729-C-G
gnomAD v4:
4-109740729-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109740729C>G , CM000666.2:g.109740729C>G | GRCh38 |
| NC_000004.11:g.110661885C>G , CM000666.1:g.110661885C>G | GRCh37 |
| NC_000004.10:g.110881334C>G | NCBI36 |
| NG_007569.1:g.66257G>C , LRG_48:g.66257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695844.1:n.1713+1762G>C | ||
| ENST00000695845.1:n.1712+1762G>C | ||
| ENST00000394634.7:c.*164G>C MANE Select | ENSP00000378130.2:n.*164G>C | |
| ENST00000394635.8:c.*164G>C | ENSP00000378131.3:n.*164G>C | |
| ENST00000645635.1:c.1534+1762G>C | ENSP00000493607.1:n.1534+1762G>C | |
| ENST00000394634.6:c.*164G>C | ENSP00000378130.2:n.*164G>C | |
| ENST00000394635.7:c.*164G>C | ENSP00000378131.3:n.*164G>C | |
| ENST00000504853.3:n.2333G>C | ||
| ENST00000512148.5:c.*164G>C | ENSP00000427438.1:n.*164G>C | |
| ENST00000618244.4:c.1121G>C | ENSP00000483416.1:p.Cys374Ser | |
| NM_000204.3:c.*164G>C , LRG_48t1:c.*164G>C | NP_000195.2:n.*164G>C | |
| XM_005262975.1:c.*164G>C | XP_005263032.1:n.*164G>C | |
| XM_005262976.1:c.*164G>C | XP_005263033.1:n.*164G>C | |
| XM_006714209.1:c.*164G>C | XP_006714272.1:n.*164G>C | |
| XM_011531920.1:c.1558+1762G>C | XP_011530222.1:n.1558+1762G>C | |
| NM_000204.4:c.*164G>C | NP_000195.2:n.*164G>C | |
| NM_001318057.1:c.*164G>C | NP_001304986.1:n.*164G>C | |
| NM_001331035.1:c.*164G>C | NP_001317964.1:n.*164G>C | |
| XM_011531920.2:c.1558+1762G>C | XP_011530222.1:n.1558+1762G>C | |
| XM_017008164.2:c.1534+1762G>C | XP_016863653.1:n.1534+1762G>C | |
| XM_017008165.2:c.1513+1762G>C | XP_016863654.1:n.1513+1762G>C | |
| XM_017008166.2:c.1534+1762G>C | XP_016863655.1:n.1534+1762G>C | |
| NM_001318057.2:c.*164G>C | NP_001304986.2:n.*164G>C | |
| NM_001331035.2:c.*164G>C | NP_001317964.1:n.*164G>C | |
| NM_001375278.1:c.1558+1762G>C | NP_001362207.1:n.1558+1762G>C | |
| NM_001375279.1:c.1534+1762G>C | NP_001362208.1:n.1534+1762G>C | |
| NM_001375280.1:c.1513+1762G>C | NP_001362209.1:n.1513+1762G>C | |
| NM_001375281.1:c.1534+1762G>C | NP_001362210.1:n.1534+1762G>C | |
| NM_001375282.1:c.1513+1762G>C | NP_001362211.1:n.1513+1762G>C | |
| NM_001375283.1:c.*164G>C | NP_001362212.1:n.*164G>C | |
| NM_001375284.1:c.*164G>C | NP_001362213.1:n.*164G>C | |
| NR_164671.1:n.1663G>C | ||
| NR_164672.1:n.1966G>C | ||
| NR_164673.1:n.1940G>C | ||
| NM_000204.5:c.*164G>C MANE Select | NP_000195.3:n.*164G>C |