Linked Data
dbSNP Id:
rs2562796
gnomAD v2:
2-191113009-T-G
gnomAD v3:
2-190248283-T-G
gnomAD v4:
2-190248283-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190248283T>G , CM000664.2:g.190248283T>G | GRCh38 |
| NC_000002.11:g.191113009T>G , CM000664.1:g.191113009T>G | GRCh37 |
| NC_000002.10:g.190821254T>G | NCBI36 |
| NG_017062.1:g.76763A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359678.10:c.750+1357A>C MANE Select | ENSP00000352706.5:n.750+1357A>C | |
| ENST00000359678.9:c.750+1357A>C | ENSP00000352706.5:n.750+1357A>C | |
| ENST00000392332.7:c.750+1357A>C | ENSP00000376144.3:n.750+1357A>C | |
| ENST00000392333.7:c.367+1357A>C | ||
| ENST00000409820.2:c.90+1357A>C | ENSP00000387098.2:n.90+1357A>C | |
| ENST00000410045.5:c.81+1357A>C | ENSP00000386274.1:n.81+1357A>C | |
| ENST00000485992.1:n.371+1357A>C | ||
| ENST00000622246.4:c.732+1357A>C | ENSP00000481055.1:n.732+1357A>C | |
| NM_014362.3:c.750+1357A>C | NP_055177.2:n.750+1357A>C | |
| NM_198047.2:c.750+1357A>C | NP_932164.1:n.750+1357A>C | |
| XM_011510953.1:c.750+1357A>C | XP_011509255.1:n.750+1357A>C | |
| XM_011510954.1:c.252+1357A>C | XP_011509256.1:n.252+1357A>C | |
| XR_922903.1:n.994+1357A>C | ||
| XM_011510953.2:c.750+1357A>C | XP_011509255.1:n.750+1357A>C | |
| XR_922903.2:n.813+1357A>C | ||
| NM_014362.4:c.750+1357A>C MANE Select | NP_055177.2:n.750+1357A>C | |
| NM_198047.3:c.750+1357A>C | NP_932164.1:n.750+1357A>C |