Linked Data
dbSNP Id:
rs12423791
gnomAD v2:
12-102858828-G-C
gnomAD v3:
12-102465050-G-C
gnomAD v4:
12-102465050-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102465050G>C , CM000674.2:g.102465050G>C | GRCh38 |
| NC_000012.11:g.102858828G>C , CM000674.1:g.102858828G>C | GRCh37 |
| NC_000012.10:g.101382958G>C | NCBI36 |
| NG_011713.1:g.20551C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337514.11:c.220+10593C>G MANE Select | ENSP00000337612.7:n.220+10593C>G | |
| ENST00000392905.7:c.220+10593C>G | ENSP00000376638.3:n.220+10593C>G | |
| ENST00000644491.1:c.220+10593C>G | ENSP00000494228.1:n.220+10593C>G | |
| ENST00000307046.8:c.220+10593C>G | ENSP00000302665.8:n.220+10593C>G | |
| ENST00000337514.10:c.220+10593C>G | ENSP00000337612.6:n.220+10593C>G | |
| ENST00000392904.5:c.220+10593C>G | ENSP00000376637.1:n.220+10593C>G | |
| ENST00000392905.6:c.163+10593C>G | ENSP00000376638.2:n.163+10593C>G | |
| ENST00000424202.6:c.172+10593C>G | ENSP00000416811.2:n.172+10593C>G | |
| ENST00000456098.5:c.220+10593C>G | ENSP00000394999.1:n.220+10593C>G | |
| NM_000618.3:c.220+10593C>G | NP_000609.1:n.220+10593C>G | |
| NM_000618.4:c.220+10593C>G | NP_000609.1:n.220+10593C>G | |
| NM_001111283.1:c.220+10593C>G | NP_001104753.1:n.220+10593C>G | |
| NM_001111283.2:c.220+10593C>G | NP_001104753.1:n.220+10593C>G | |
| NM_001111284.1:c.172+10593C>G | NP_001104754.1:n.172+10593C>G | |
| NM_001111285.1:c.220+10593C>G | NP_001104755.1:n.220+10593C>G | |
| XR_944534.1:n.479+10593C>G | ||
| XR_944535.1:n.256+10593C>G | ||
| XR_944536.1:n.241+10593C>G | ||
| NM_001111285.2:c.220+10593C>G | NP_001104755.1:n.220+10593C>G | |
| XM_017019259.1:c.271+10593C>G | XP_016874748.1:n.271+10593C>G | |
| XM_017019261.1:c.172+10593C>G | XP_016874750.1:n.172+10593C>G | |
| XM_017019262.2:c.271+10593C>G | XP_016874751.1:n.271+10593C>G | |
| XM_017019263.2:c.271+10593C>G | XP_016874752.1:n.271+10593C>G | |
| NM_000618.5:c.220+10593C>G MANE Select | NP_000609.1:n.220+10593C>G | |
| NM_001111283.3:c.220+10593C>G | NP_001104753.1:n.220+10593C>G | |
| NM_001111284.2:c.172+10593C>G | NP_001104754.1:n.172+10593C>G | |
| NM_001111285.3:c.220+10593C>G | NP_001104755.1:n.220+10593C>G |