Linked Data
dbSNP Id:
rs200653281
ExAC:
7:150554299 G / C
gnomAD v2:
7-150554299-G-C
gnomAD v3:
7-150857211-G-C
gnomAD v4:
7-150857211-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150857211G>C , CM000669.2:g.150857211G>C | GRCh38 |
| NC_000007.13:g.150554299G>C , CM000669.1:g.150554299G>C | GRCh37 |
| NC_000007.12:g.150185232G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.741G>C MANE Select | ENSP00000354193.4:p.Glu247Asp | |
| ENST00000360937.8:c.741G>C | ENSP00000354193.4:p.Glu247Asp | |
| ENST00000416793.6:c.741G>C | ENSP00000411613.2:p.Glu247Asp | |
| ENST00000460213.1:c.741G>C | ENSP00000418557.1:p.Glu247Asp | |
| ENST00000467291.5:c.741G>C | ENSP00000418328.1:p.Glu247Asp | |
| ENST00000483043.1:c.741G>C | ENSP00000417392.1:p.Glu247Asp | |
| ENST00000493429.5:c.741G>C | ENSP00000418614.1:p.Glu247Asp | |
| ENST00000619575.1:c.741G>C | ENSP00000481717.1:p.Glu247Asp | |
| ENST00000622116.4:c.-682G>C | ENSP00000481520.1:n.-682G>C | |
| NM_001091.3:c.741G>C | NP_001082.2:p.Glu247Asp | |
| NM_001272072.1:c.741G>C | NP_001259001.1:p.Glu247Asp | |
| XM_011516008.1:c.741G>C | XP_011514310.1:p.Glu247Asp | |
| XM_011516009.1:c.741G>C | XP_011514311.1:p.Glu247Asp | |
| XR_928169.1:n.296-15766C>G | ||
| XR_928170.1:n.425+11405C>G | ||
| XR_928171.1:n.298-15766C>G | ||
| XM_017011944.1:c.741G>C | XP_016867433.1:p.Glu247Asp | |
| XM_017011945.1:c.741G>C | XP_016867434.1:p.Glu247Asp | |
| XM_017011946.2:c.741G>C | XP_016867435.1:p.Glu247Asp | |
| XM_017011947.1:c.741G>C | XP_016867436.1:p.Glu247Asp | |
| XR_928169.2:n.302-15766C>G | ||
| XR_928171.2:n.302-15766C>G | ||
| NM_001091.4:c.741G>C MANE Select | NP_001082.2:p.Glu247Asp | |
| NM_001272072.2:c.741G>C | NP_001259001.1:p.Glu247Asp |