Linked Data
ClinVar Variation Id:
259605
dbSNP Id:
rs112597191
ExAC:
6:76596570 T / C
gnomAD v2:
6-76596570-T-C
gnomAD v3:
6-75886853-T-C
gnomAD v4:
6-75886853-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75886853T>C , CM000668.2:g.75886853T>C | GRCh38 |
| NC_000006.11:g.76596570T>C , CM000668.1:g.76596570T>C | GRCh37 |
| NC_000006.10:g.76653290T>C | NCBI36 |
| NG_009934.1:g.142662T>C | |
| NG_009934.2:g.142661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.2517T>C | ENSP00000358992.1:p.Gly839= | |
| ENST00000369977.8:c.2517T>C MANE Select | ENSP00000358994.3:p.Gly839= | |
| ENST00000369985.9:c.2517T>C | ENSP00000359002.3:p.Gly839= | |
| ENST00000462633.3:c.*2073T>C | ENSP00000499616.2:n.*2073T>C | |
| ENST00000627432.3:c.2526T>C | ENSP00000487348.2:p.Gly842= | |
| ENST00000653423.1:c.2517T>C | ENSP00000499696.1:p.Gly839= | |
| ENST00000653917.1:c.*624T>C | ENSP00000499623.1:n.*624T>C | |
| ENST00000660420.1:c.*2473T>C | ENSP00000499263.1:n.*2473T>C | |
| ENST00000662184.1:c.*624T>C | ENSP00000499732.1:n.*624T>C | |
| ENST00000662603.1:c.2517T>C | ENSP00000499324.1:p.Gly839= | |
| ENST00000663400.1:c.*542T>C | ENSP00000499736.1:n.*542T>C | |
| ENST00000664209.1:c.2517T>C | ENSP00000499768.1:p.Gly839= | |
| ENST00000664640.1:c.2517T>C | ENSP00000499278.1:p.Gly839= | |
| ENST00000671923.1:c.*624T>C | ENSP00000500835.1:n.*624T>C | |
| ENST00000672093.1:c.2517T>C | ENSP00000500710.1:p.Gly839= | |
| ENST00000369975.5:c.2517T>C | ENSP00000358992.1:p.Gly839= | |
| ENST00000369977.7:c.2517T>C | ENSP00000358994.3:p.Gly839= | |
| ENST00000369981.7:c.2517T>C | ENSP00000358998.4:p.Gly839= | |
| ENST00000369985.8:c.2517T>C | ENSP00000359002.3:p.Gly839= | |
| ENST00000615563.4:c.2517T>C | ENSP00000478013.1:p.Gly839= | |
| ENST00000627432.2:c.2517T>C | ENSP00000487348.1:p.Gly839= | |
| NM_001300899.1:c.2517T>C | NP_001287828.1:p.Gly839= | |
| NM_004999.3:c.2517T>C | NP_004990.3:p.Gly839= | |
| XM_005248719.2:c.2517T>C | XP_005248776.1:p.Gly839= | |
| XM_005248720.2:c.2517T>C | XP_005248777.1:p.Gly839= | |
| XM_005248721.2:c.2517T>C | XP_005248778.1:p.Gly839= | |
| XM_005248722.2:c.2517T>C | XP_005248779.1:p.Gly839= | |
| XM_005248724.2:c.2517T>C | XP_005248781.1:p.Gly839= | |
| XM_005248726.2:c.2517T>C | XP_005248783.1:p.Gly839= | |
| XM_005248719.4:c.2517T>C | XP_005248776.1:p.Gly839= | |
| XM_005248720.4:c.2517T>C | XP_005248777.1:p.Gly839= | |
| XM_005248721.4:c.2517T>C | XP_005248778.1:p.Gly839= | |
| XM_005248722.4:c.2517T>C | XP_005248779.1:p.Gly839= | |
| XM_005248724.4:c.2517T>C | XP_005248781.1:p.Gly839= | |
| XM_005248726.4:c.2517T>C | XP_005248783.1:p.Gly839= | |
| XM_017010899.2:c.2517T>C | XP_016866388.1:p.Gly839= | |
| XM_024446447.1:c.2517T>C | XP_024302215.1:p.Gly839= | |
| XM_024446448.1:c.2517T>C | XP_024302216.1:p.Gly839= | |
| NM_004999.4:c.2517T>C MANE Select | NP_004990.3:p.Gly839= | |
| NM_001300899.2:c.2517T>C | NP_001287828.1:p.Gly839= | |
| NM_001368136.1:c.2517T>C | NP_001355065.1:p.Gly839= | |
| NM_001368137.1:c.2517T>C | NP_001355066.1:p.Gly839= | |
| NM_001368138.1:c.2502T>C | NP_001355067.1:p.Gly834= | |
| NM_001368865.1:c.2517T>C | NP_001355794.1:p.Gly839= | |
| NM_001368866.1:c.2517T>C | NP_001355795.1:p.Gly839= | |
| NR_160538.1:n.2842T>C |