Linked Data
dbSNP Id:
rs753238243
gnomAD v2:
16-19595138-C-T
gnomAD v3:
16-19583816-C-T
gnomAD v4:
16-19583816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.19583816C>T , CM000678.2:g.19583816C>T | GRCh38 |
| NC_000016.9:g.19595138C>T , CM000678.1:g.19595138C>T | GRCh37 |
| NC_000016.8:g.19502639C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000417362.7:c.639+2163C>T MANE Select | ENSP00000395973.3:n.639+2163C>T | |
| ENST00000251143.9:c.906+2163C>T | ENSP00000251143.6:n.906+2163C>T | |
| ENST00000417362.6:c.639+2163C>T | ENSP00000395973.3:n.639+2163C>T | |
| ENST00000438132.7:c.906+2163C>T | ENSP00000400815.3:n.906+2163C>T | |
| ENST00000448695.5:c.274+2162C>T | ENSP00000398009.2:n.274+2162C>T | |
| ENST00000513947.8:c.639+2163C>T | ENSP00000458116.3:n.639+2163C>T | |
| ENST00000539322.5:c.*139+2163C>T | ENSP00000438852.1:n.*139+2163C>T | |
| ENST00000542263.5:c.906+2163C>T | ENSP00000442468.1:n.906+2163C>T | |
| ENST00000543152.5:c.-30+2163C>T | ENSP00000457973.1:n.-30+2163C>T | |
| NM_001300743.1:c.906+2163C>T | NP_001287672.1:n.906+2163C>T | |
| NM_020314.5:c.906+2163C>T | NP_064710.4:n.906+2163C>T | |
| XM_005255435.2:c.906+2163C>T | XP_005255492.1:n.906+2163C>T | |
| XM_006721065.2:c.906+2163C>T | XP_006721128.1:n.906+2163C>T | |
| XM_011545895.1:c.906+2163C>T | XP_011544197.1:n.906+2163C>T | |
| XM_011545896.1:c.-321+2163C>T | XP_011544198.1:n.-321+2163C>T | |
| NM_001300743.2:c.639+2163C>T | NP_001287672.2:n.639+2163C>T | |
| NM_001365293.1:c.639+2163C>T | NP_001352222.1:n.639+2163C>T | |
| NM_001365294.1:c.639+2163C>T | NP_001352223.1:n.639+2163C>T | |
| NM_001365295.1:c.-321+2163C>T | NP_001352224.1:n.-321+2163C>T | |
| NM_020314.6:c.639+2163C>T | NP_064710.5:n.639+2163C>T | |
| NR_158160.1:n.666+2163C>T | ||
| NR_158161.1:n.666+2163C>T | ||
| NM_001300743.3:c.639+2163C>T | NP_001287672.2:n.639+2163C>T | |
| NM_001365293.2:c.639+2163C>T | NP_001352222.1:n.639+2163C>T | |
| NM_001365294.2:c.639+2163C>T | NP_001352223.1:n.639+2163C>T | |
| NM_001365295.2:c.-321+2163C>T | NP_001352224.1:n.-321+2163C>T | |
| NM_020314.7:c.639+2163C>T MANE Select | NP_064710.5:n.639+2163C>T | |
| NR_158160.2:n.666+2163C>T | ||
| NR_158161.2:n.666+2163C>T |