Linked Data
ClinVar Variation Id:
2904822
ClinVar RCV Id:
RCV003634110
dbSNP Id:
rs769360391
ExAC:
2:32289195 C / T
gnomAD v2:
2-32289195-C-T
gnomAD v3:
2-32064126-C-T
gnomAD v4:
2-32064126-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32064126C>T , CM000664.2:g.32064126C>T | GRCh38 |
| NC_000002.11:g.32289195C>T , CM000664.1:g.32289195C>T | GRCh37 |
| NC_000002.10:g.32142699C>T | NCBI36 |
| NG_008730.1:g.5516C>T , LRG_714:g.5516C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.295C>T | ENSP00000515816.1:p.Pro99Ser | |
| ENST00000315285.9:c.295C>T MANE Select | ENSP00000320885.3:p.Pro99Ser | |
| ENST00000621856.2:c.295C>T | ENSP00000482496.2:p.Pro99Ser | |
| ENST00000642281.1:c.179C>T | ||
| ENST00000642455.1:c.295C>T | ENSP00000493827.1:p.Pro99Ser | |
| ENST00000642751.1:c.165C>T | ||
| ENST00000642999.1:c.37C>T | ENSP00000496589.1:p.Pro13Ser | |
| ENST00000644408.1:c.171C>T | ||
| ENST00000644954.1:c.37C>T | ENSP00000494312.1:p.Pro13Ser | |
| ENST00000645400.1:c.136C>T | ENSP00000496306.1:p.Pro46Ser | |
| ENST00000646082.1:c.129C>T | ||
| ENST00000646571.1:c.295C>T | ENSP00000495015.1:p.Pro99Ser | |
| ENST00000315285.7:c.295C>T | ENSP00000320885.3:p.Pro99Ser | |
| ENST00000345662.5:c.295C>T | ENSP00000340817.1:p.Pro99Ser | |
| ENST00000615843.4:c.295C>T | ENSP00000480893.1:p.Pro99Ser | |
| ENST00000621856.1:c.37C>T | ENSP00000482496.1:p.Pro13Ser | |
| NM_014946.3:c.295C>T , LRG_714t1:c.295C>T | NP_055761.2:p.Pro99Ser | |
| NM_199436.1:c.295C>T | NP_955468.1:p.Pro99Ser | |
| XM_005264516.3:c.295C>T | XP_005264573.1:p.Pro99Ser | |
| XM_011533067.1:c.295C>T | XP_011531369.1:p.Pro99Ser | |
| NM_001363823.1:c.295C>T | NP_001350752.1:p.Pro99Ser | |
| NM_001363875.1:c.295C>T | NP_001350804.1:p.Pro99Ser | |
| XM_005264516.5:c.295C>T | XP_005264573.1:p.Pro99Ser | |
| XM_011533067.2:c.295C>T | XP_011531369.1:p.Pro99Ser | |
| XM_017004778.2:c.295C>T | XP_016860267.1:p.Pro99Ser | |
| NM_001363823.2:c.295C>T | NP_001350752.1:p.Pro99Ser | |
| NM_001363875.2:c.295C>T | NP_001350804.1:p.Pro99Ser | |
| NM_001377959.1:c.295C>T | NP_001364888.1:p.Pro99Ser | |
| NM_014946.4:c.295C>T MANE Select | NP_055761.2:p.Pro99Ser | |
| NM_199436.2:c.295C>T | NP_955468.1:p.Pro99Ser |