Linked Data
ClinVar Variation Id:
2160720
ClinVar RCV Id:
RCV003087706
dbSNP Id:
rs770204204
ExAC:
11:125887020 T / C
gnomAD v2:
11-125887020-T-C
gnomAD v3:
11-126017125-T-C
gnomAD v4:
11-126017125-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126017125T>C , CM000673.2:g.126017125T>C | GRCh38 |
| NC_000011.9:g.125887020T>C , CM000673.1:g.125887020T>C | GRCh37 |
| NC_000011.8:g.125392230T>C | NCBI36 |
| NG_029776.1:g.51168A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682450.1:n.1010A>G | ||
| ENST00000682556.1:n.1097A>G | ||
| ENST00000682834.1:n.1080A>G | ||
| ENST00000683716.1:c.891A>G | ENSP00000506883.1:p.Gly297= | |
| ENST00000684078.1:c.891A>G | ENSP00000507318.1:p.Gly297= | |
| ENST00000684167.1:n.1290A>G | ||
| ENST00000684564.1:n.1101A>G | ||
| ENST00000684636.1:c.891A>G | ENSP00000508160.1:p.Gly297= | |
| ENST00000525625.2:n.980A>G | ||
| ENST00000531738.6:c.891A>G MANE Select | ENSP00000432901.2:p.Gly297= | |
| ENST00000531830.2:c.913A>G | ||
| ENST00000263577.11:c.891A>G | ENSP00000263577.7:p.Gly297= | |
| ENST00000392693.7:c.891A>G | ENSP00000376458.3:p.Gly297= | |
| ENST00000525625.1:n.954A>G | ||
| ENST00000531830.1:c.395A>G | ||
| ENST00000534661.5:c.817A>G | ||
| NM_001243597.1:c.891A>G | NP_001230526.1:p.Gly297= | |
| NM_016952.4:c.891A>G | NP_058648.4:p.Gly297= | |
| XM_011542862.1:c.891A>G | XP_011541164.1:p.Gly297= | |
| XM_011542863.1:c.891A>G | XP_011541165.1:p.Gly297= | |
| XM_011542864.1:c.891A>G | XP_011541166.1:p.Gly297= | |
| XM_011542865.1:c.891A>G | XP_011541167.1:p.Gly297= | |
| XM_011542866.1:c.891A>G | XP_011541168.1:p.Gly297= | |
| XM_011542862.3:c.891A>G | XP_011541164.1:p.Gly297= | |
| XM_011542863.2:c.891A>G | XP_011541165.1:p.Gly297= | |
| XM_011542864.2:c.891A>G | XP_011541166.1:p.Gly297= | |
| XM_011542865.2:c.891A>G | XP_011541167.1:p.Gly297= | |
| XM_011542866.3:c.891A>G | XP_011541168.1:p.Gly297= | |
| XM_017017873.1:c.891A>G | XP_016873362.1:p.Gly297= | |
| XR_001747899.2:n.1202A>G | ||
| NM_001243597.2:c.891A>G | NP_001230526.1:p.Gly297= | |
| NM_001378964.1:c.891A>G MANE Select | NP_001365893.1:p.Gly297= | |
| NM_016952.5:c.891A>G | NP_058648.4:p.Gly297= |