Linked Data
dbSNP Id:
rs771923992
ExAC:
2:44073326 G / C
gnomAD v2:
2-44073326-G-C
gnomAD v4:
2-43846187-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43846187G>C , CM000664.2:g.43846187G>C | GRCh38 |
| NC_000002.11:g.44073326G>C , CM000664.1:g.44073326G>C | GRCh37 |
| NC_000002.10:g.43926830G>C | NCBI36 |
| NG_008884.1:g.12224G>C | |
| NG_008884.2:g.19246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.198G>C MANE Select | ENSP00000272286.2:p.Glu66Asp | |
| ENST00000643284.1:n.655G>C | ||
| ENST00000644611.1:c.210G>C | ENSP00000495423.1:p.Glu70Asp | |
| ENST00000272286.2:c.198G>C | ENSP00000272286.2:p.Glu66Asp | |
| NM_022437.2:c.198G>C | NP_071882.1:p.Glu66Asp | |
| XM_005264483.2:c.198G>C | XP_005264540.1:p.Glu66Asp | |
| XM_011533029.1:c.210G>C | XP_011531331.1:p.Glu70Asp | |
| XM_011533030.1:c.210G>C | XP_011531332.1:p.Glu70Asp | |
| XM_011533031.1:c.-19G>C | XP_011531333.1:n.-19G>C | |
| XR_939707.1:n.700G>C | ||
| NM_001357321.1:c.198G>C | NP_001344250.1:p.Glu66Asp | |
| XM_011533029.2:c.210G>C | XP_011531331.1:p.Glu70Asp | |
| XM_011533030.2:c.210G>C | XP_011531332.1:p.Glu70Asp | |
| XR_001738891.1:n.714G>C | ||
| XR_939707.2:n.714G>C | ||
| NM_022437.3:c.198G>C MANE Select | NP_071882.1:p.Glu66Asp | |
| NM_001357321.2:c.198G>C | NP_001344250.1:p.Glu66Asp |