Linked Data
ClinVar Variation Id:
363928
dbSNP Id:
rs369812327
ExAC:
8:94828620 T / C
gnomAD v2:
8-94828620-T-C
gnomAD v3:
8-93816392-T-C
gnomAD v4:
8-93816392-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93816392T>C , CM000670.2:g.93816392T>C | GRCh38 |
| NC_000008.10:g.94828620T>C , CM000670.1:g.94828620T>C | GRCh37 |
| NC_000008.9:g.94897796T>C | NCBI36 |
| NG_009190.1:g.66549T>C , LRG_688:g.66549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2928T>C | ENSP00000314488.4:p.Asn976= | |
| ENST00000409623.8:c.2883T>C | ENSP00000386966.4:p.Asn961= | |
| ENST00000452276.6:c.2811T>C | ENSP00000388671.2:p.Asn937= | |
| ENST00000453906.6:c.2046T>C | ENSP00000403035.2:p.Asn682= | |
| ENST00000518896.2:c.1219T>C | ENSP00000507992.1:n.1219T>C | |
| ENST00000520680.2:c.3051T>C | ENSP00000428785.2:p.Asn1017= | |
| ENST00000521517.6:c.2829T>C | ENSP00000430740.2:p.Asn943= | |
| ENST00000681998.1:c.2749T>C | ENSP00000506773.1:n.2749T>C | |
| ENST00000682036.1:c.2169T>C | ENSP00000508390.1:p.Asn723= | |
| ENST00000682577.1:c.2701T>C | ENSP00000506963.1:n.2701T>C | |
| ENST00000682624.1:c.*2502T>C | ENSP00000508343.1:n.*2502T>C | |
| ENST00000682700.1:c.3059T>C | ENSP00000507627.1:n.3059T>C | |
| ENST00000682744.1:n.2363T>C | ||
| ENST00000682804.1:n.2751T>C | ||
| ENST00000682837.1:c.2417T>C | ENSP00000507920.1:n.2417T>C | |
| ENST00000682935.1:n.4978T>C | ||
| ENST00000682984.1:c.2589T>C | ENSP00000507209.1:p.Asn863= | |
| ENST00000683078.1:c.2683T>C | ENSP00000506796.1:n.2683T>C | |
| ENST00000683223.1:c.2854T>C | ENSP00000507685.1:n.2854T>C | |
| ENST00000683238.1:n.4152T>C | ||
| ENST00000683249.1:n.4525T>C | ||
| ENST00000683336.1:c.2646T>C | ENSP00000507695.1:n.2646T>C | |
| ENST00000683362.1:c.2589T>C | ENSP00000506985.1:p.Asn863= | |
| ENST00000683919.1:c.2858T>C | ENSP00000507617.1:n.2858T>C | |
| ENST00000683953.1:c.2839T>C | ENSP00000508375.1:n.2839T>C | |
| ENST00000684023.1:c.3099T>C | ENSP00000507461.1:n.3099T>C | |
| ENST00000684064.1:c.2619T>C | ENSP00000508192.1:p.Asn873= | |
| ENST00000684089.1:n.4478T>C | ||
| ENST00000684149.1:c.*2107T>C | ENSP00000507943.1:n.*2107T>C | |
| ENST00000684343.1:c.1125T>C | ENSP00000507591.1:p.Asn375= | |
| ENST00000684416.1:n.2887T>C | ||
| ENST00000684540.1:c.3052T>C | ENSP00000507987.1:n.3052T>C | |
| ENST00000453321.8:c.2928T>C MANE Select | ENSP00000389998.3:p.Asn976= | |
| ENST00000323130.7:c.2898T>C | ENSP00000314488.3:p.Asn966= | |
| ENST00000409623.7:c.2685T>C | ENSP00000386966.3:p.Asn895= | |
| ENST00000453321.7:c.2928T>C | ENSP00000389998.3:p.Asn976= | |
| ENST00000518896.1:n.194T>C | ||
| ENST00000519845.5:n.1660T>C | ||
| NM_001142301.1:c.2685T>C , LRG_688t2:c.2685T>C | NP_001135773.1:p.Asn895= | |
| NM_153704.5:c.2928T>C , LRG_688t1:c.2928T>C | NP_714915.3:p.Asn976= | |
| NR_024522.1:n.2999T>C | ||
| XM_006716686.2:c.2625T>C | XP_006716749.1:p.Asn875= | |
| XM_006716687.2:c.2328T>C | XP_006716750.1:p.Asn776= | |
| XM_011517363.1:c.2046T>C | XP_011515665.1:p.Asn682= | |
| XR_428387.1:n.2986T>C | ||
| XR_928360.1:n.2986T>C | ||
| XR_928361.1:n.2986T>C | ||
| XR_928362.1:n.3180T>C | ||
| XM_006716686.4:c.2625T>C | XP_006716749.1:p.Asn875= | |
| XM_011517363.3:c.2046T>C | XP_011515665.1:p.Asn682= | |
| XM_024447326.1:c.2274T>C | XP_024303094.1:p.Asn758= | |
| XR_001745619.2:n.2969T>C | ||
| XR_428387.2:n.2969T>C | ||
| XR_928360.3:n.2969T>C | ||
| XR_928362.3:n.3163T>C | ||
| NM_153704.6:c.2928T>C MANE Select | NP_714915.3:p.Asn976= | |
| NR_024522.2:n.2949T>C |