Linked Data
ClinVar Variation Id:
1285295
dbSNP Id:
rs2228226
ExAC:
12:57865821 G / C
gnomAD v2:
12-57865821-G-C
gnomAD v3:
12-57472038-G-C
gnomAD v4:
12-57472038-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57472038G>C , CM000674.2:g.57472038G>C | GRCh38 |
| NC_000012.11:g.57865821G>C , CM000674.1:g.57865821G>C | GRCh37 |
| NC_000012.10:g.56152088G>C | NCBI36 |
| NG_023205.1:g.12813C>G | |
| NG_029564.1:g.16904G>C | |
| NG_023205.2:g.21777C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228682.7:c.3298G>C MANE Select | ENSP00000228682.2:p.Glu1100Gln | |
| ENST00000228682.6:c.3298G>C | ENSP00000228682.2:p.Glu1100Gln | |
| ENST00000528467.1:c.3175G>C | ENSP00000434408.1:p.Glu1059Gln | |
| ENST00000543426.5:c.2914G>C | ENSP00000437607.1:p.Glu972Gln | |
| ENST00000546141.5:c.3175G>C | ENSP00000441006.1:p.Glu1059Gln | |
| NM_001160045.1:c.2914G>C | NP_001153517.1:p.Glu972Gln | |
| NM_001167609.1:c.3175G>C | NP_001161081.1:p.Glu1059Gln | |
| NM_005269.2:c.3298G>C | NP_005260.1:p.Glu1100Gln | |
| XM_005268799.2:c.2914G>C | XP_005268856.1:p.Glu972Gln | |
| XM_011538189.1:c.3298G>C | XP_011536491.1:p.Glu1100Gln | |
| XM_011538190.1:c.3067G>C | XP_011536492.1:p.Glu1023Gln | |
| XM_011538189.2:c.3298G>C | XP_011536491.1:p.Glu1100Gln | |
| XM_011538190.2:c.3067G>C | XP_011536492.1:p.Glu1023Gln | |
| NM_005269.3:c.3298G>C MANE Select | NP_005260.1:p.Glu1100Gln | |
| NM_001160045.2:c.2914G>C | NP_001153517.1:p.Glu972Gln | |
| NM_001167609.2:c.3175G>C | NP_001161081.1:p.Glu1059Gln |