Linked Data
dbSNP Id:
rs1227841036
gnomAD v2:
11-68174190-T-G
gnomAD v3:
11-68406722-T-G
gnomAD v4:
11-68406722-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68406722T>G , CM000673.2:g.68406722T>G | GRCh38 |
| NC_000011.9:g.68174190T>G , CM000673.1:g.68174190T>G | GRCh37 |
| NC_000011.8:g.67930766T>G | NCBI36 |
| NG_015835.1:g.99083T>G | |
| NG_015835.2:g.99083T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.2000T>G MANE Select | ENSP00000294304.6:p.Val667Gly | |
| ENST00000294304.11:c.2000T>G | ENSP00000294304.6:p.Val667Gly | |
| ENST00000529993.5:c.*606T>G | ENSP00000436652.1:n.*606T>G | |
| NM_001291902.1:c.257T>G | NP_001278831.1:p.Val86Gly | |
| NM_002335.3:c.2000T>G | NP_002326.2:p.Val667Gly | |
| XM_005273994.2:c.2000T>G | XP_005274051.1:p.Val667Gly | |
| XM_011545029.1:c.2027T>G | XP_011543331.1:p.Val676Gly | |
| XM_011545030.1:c.2027T>G | XP_011543332.1:p.Val676Gly | |
| XM_011545031.1:c.2027T>G | XP_011543333.1:p.Val676Gly | |
| XR_949925.1:n.2042T>G | ||
| XR_949926.1:n.2042T>G | ||
| XM_017017735.1:c.257T>G | XP_016873224.1:p.Val86Gly | |
| XR_001747874.1:n.2042T>G | ||
| XR_949925.2:n.2042T>G | ||
| XR_949926.2:n.2042T>G | ||
| NM_002335.4:c.2000T>G MANE Select | NP_002326.2:p.Val667Gly | |
| NM_001291902.2:c.257T>G | NP_001278831.1:p.Val86Gly |