Linked Data
ClinVar Variation Id:
178605
dbSNP Id:
rs116463365
ExAC:
5:140958697 C / T
gnomAD v2:
5-140958697-C-T
gnomAD v3:
5-141579130-C-T
gnomAD v4:
5-141579130-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141579130C>T , CM000667.2:g.141579130C>T | GRCh38 |
| NC_000005.9:g.140958697C>T , CM000667.1:g.140958697C>T | GRCh37 |
| NC_000005.8:g.140938881C>T | NCBI36 |
| NG_011594.1:g.44926G>A | |
| NG_011594.2:g.44926G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.891G>A MANE Select | ENSP00000373706.4:p.Pro297= | |
| ENST00000647330.1:c.868G>A | ENSP00000494308.1:n.868G>A | |
| ENST00000647433.1:c.891G>A | ENSP00000494675.1:p.Pro297= | |
| ENST00000253811.10:c.759G>A | ENSP00000253811.7:p.Pro253= | |
| ENST00000389054.7:c.891G>A | ENSP00000373706.4:p.Pro297= | |
| ENST00000389057.9:c.864G>A | ENSP00000373709.6:p.Pro288= | |
| ENST00000398557.8:c.891G>A | ENSP00000381565.5:p.Pro297= | |
| ENST00000518047.5:c.864G>A | ENSP00000428268.2:p.Pro288= | |
| ENST00000523100.5:c.*118G>A | ENSP00000428208.1:n.*118G>A | |
| NM_001079812.2:c.864G>A | NP_001073280.1:p.Pro288= | |
| NM_001314007.1:c.891G>A | NP_001300936.1:p.Pro297= | |
| NM_005219.4:c.891G>A | NP_005210.3:p.Pro297= | |
| XM_011537572.1:c.855G>A | XP_011535874.1:p.Pro285= | |
| XM_011537573.1:c.825G>A | XP_011535875.1:p.Pro275= | |
| XR_944362.1:n.73+2817C>T | ||
| XM_024454384.1:c.891G>A | XP_024310152.1:p.Pro297= | |
| XM_024454385.1:c.864G>A | XP_024310153.1:p.Pro288= | |
| XM_024454386.1:c.855G>A | XP_024310154.1:p.Pro285= | |
| XM_024454387.1:c.825G>A | XP_024310155.1:p.Pro275= | |
| NM_005219.5:c.891G>A MANE Select | NP_005210.3:p.Pro297= | |
| NM_001079812.3:c.864G>A | NP_001073280.1:p.Pro288= | |
| NM_001314007.2:c.891G>A | NP_001300936.1:p.Pro297= |