Linked Data
ClinVar Variation Id:
1907269
ClinVar RCV Id:
RCV002578104
dbSNP Id:
rs755133988
ExAC:
11:18309186 A / G
gnomAD v2:
11-18309186-A-G
gnomAD v3:
11-18287639-A-G
gnomAD v4:
11-18287639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18287639A>G , CM000673.2:g.18287639A>G | GRCh38 |
| NC_000011.9:g.18309186A>G , CM000673.1:g.18309186A>G | GRCh37 |
| NC_000011.8:g.18265762A>G | NCBI36 |
| NG_008877.1:g.39536T>C , LRG_586:g.39536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2613T>C MANE Select | ENSP00000265967.5:p.Phe871= | |
| ENST00000349215.7:c.2613T>C | ENSP00000265967.5:p.Phe871= | |
| ENST00000352460.7:n.1004T>C | ||
| ENST00000396253.7:c.2271T>C | ENSP00000379552.3:p.Phe757= | |
| ENST00000438420.6:c.2271T>C | ENSP00000399590.2:p.Phe757= | |
| ENST00000544218.5:c.171T>C | ENSP00000441781.1:p.Phe57= | |
| ENST00000545561.1:n.674T>C | ||
| NM_007216.3:c.2271T>C | NP_009147.3:p.Phe757= | |
| NM_181507.1:c.2613T>C , LRG_586t1:c.2613T>C | NP_852608.1:p.Phe871= | |
| NM_181508.1:c.2271T>C | NP_852609.1:p.Phe757= | |
| XM_011519862.1:c.2613T>C | XP_011518164.1:p.Phe871= | |
| XM_011519863.1:c.2613T>C | XP_011518165.1:p.Phe871= | |
| XM_011519864.1:c.2613T>C | XP_011518166.1:p.Phe871= | |
| XM_011519865.1:c.2502T>C | XP_011518167.1:p.Phe834= | |
| XM_011519866.1:c.2271T>C | XP_011518168.1:p.Phe757= | |
| XM_011519867.1:c.2271T>C | XP_011518169.1:p.Phe757= | |
| XM_011519868.1:c.2271T>C | XP_011518170.1:p.Phe757= | |
| XM_011519869.1:c.2613T>C | XP_011518171.1:p.Phe871= | |
| XM_011519870.1:c.*97T>C | XP_011518172.1:n.*97T>C | |
| XM_011519871.1:c.*97T>C | XP_011518173.1:n.*97T>C | |
| XM_011519868.3:c.2271T>C | XP_011518170.1:p.Phe757= | |
| XM_017017149.1:c.2613T>C | XP_016872638.1:p.Phe871= | |
| XM_017017150.1:c.2613T>C | XP_016872639.1:p.Phe871= | |
| XM_017017151.2:c.2502T>C | XP_016872640.1:p.Phe834= | |
| XM_017017152.1:c.2502T>C | XP_016872641.1:p.Phe834= | |
| XM_017017153.2:c.2502T>C | XP_016872642.1:p.Phe834= | |
| XM_017017154.1:c.2271T>C | XP_016872643.1:p.Phe757= | |
| XR_001747750.1:n.2882T>C | ||
| XR_001747751.1:n.2882T>C | ||
| XR_001747752.1:n.2638T>C | ||
| XR_001747753.1:n.2755T>C | ||
| XR_001747754.2:n.2279T>C | ||
| XR_001747755.2:n.2201T>C | ||
| XR_001747756.2:n.2214T>C | ||
| NM_007216.4:c.2271T>C | NP_009147.3:p.Phe757= | |
| NM_181507.2:c.2613T>C MANE Select | NP_852608.1:p.Phe871= |