Linked Data
dbSNP Id:
rs1802232996
gnomAD v4:
8-11750197-T-C
MyVariant Identifiers:
chr8:g.11607706T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11750197T>C , CM000670.2:g.11750197T>C | GRCh38 |
| NC_000008.10:g.11607706T>C , CM000670.1:g.11607706T>C | GRCh37 |
| NC_000008.9:g.11645115T>C | NCBI36 |
| NG_008177.2:g.78279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.870T>C | ENSP00000482268.2:p.Pro290= | |
| ENST00000532059.6:c.873T>C MANE Select | ENSP00000435712.1:p.Pro291= | |
| ENST00000335135.8:c.870T>C | ENSP00000334458.4:p.Pro290= | |
| ENST00000526716.5:c.252T>C | ENSP00000435347.1:p.Pro84= | |
| ENST00000528712.5:c.252T>C | ENSP00000435043.1:p.Pro84= | |
| ENST00000532059.5:c.873T>C | ENSP00000435712.1:p.Pro291= | |
| ENST00000622443.2:c.867T>C | ENSP00000482268.1:p.Pro289= | |
| NM_001308093.1:c.873T>C | NP_001295022.1:p.Pro291= | |
| NM_001308094.1:c.252T>C | NP_001295023.1:p.Pro84= | |
| NM_002052.3:c.870T>C | NP_002043.2:p.Pro290= | |
| NM_002052.4:c.870T>C | NP_002043.2:p.Pro290= | |
| XM_005272385.3:c.873T>C | XP_005272442.1:p.Pro291= | |
| XM_005272386.1:c.873T>C | XP_005272443.1:p.Pro291= | |
| XM_006716248.1:c.873T>C | XP_006716311.1:p.Pro291= | |
| XM_011543817.1:c.873T>C | XP_011542119.1:p.Pro291= | |
| XM_011543818.1:c.873T>C | XP_011542120.1:p.Pro291= | |
| XM_005272385.4:c.873T>C | XP_005272442.1:p.Pro291= | |
| XM_011543817.3:c.873T>C | XP_011542119.1:p.Pro291= | |
| XM_011543818.2:c.873T>C | XP_011542120.1:p.Pro291= | |
| XM_017013312.2:c.873T>C | XP_016868801.1:p.Pro291= | |
| NM_001308093.3:c.873T>C MANE Select | NP_001295022.1:p.Pro291= | |
| NM_001308094.2:c.252T>C | NP_001295023.1:p.Pro84= | |
| NM_001374273.1:c.252T>C | NP_001361202.1:p.Pro84= | |
| NM_001374274.1:c.165+1112T>C | NP_001361203.1:n.165+1112T>C | |
| NM_002052.5:c.870T>C | NP_002043.2:p.Pro290= |