Linked Data
ClinVar Variation Id:
208394
ClinVar RCV Id:
RCV000202328
dbSNP Id:
rs863223353
gnomAD v4:
7-130499898-C-T
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130499898C>T , CM000669.2:g.130499898C>T | GRCh38 |
| NC_000007.13:g.130139739C>T , CM000669.1:g.130139739C>T | GRCh37 |
| NC_000007.12:g.129926975C>T | NCBI36 |
| NG_009226.1:g.18694C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223215.10:c.559C>T MANE Select | ENSP00000223215.4:p.Pro187Ser | |
| ENST00000378576.9:c.532C>T | ENSP00000367839.4:p.Pro178Ser | |
| ENST00000416162.7:c.532C>T | ENSP00000408933.2:p.Pro178Ser | |
| ENST00000427521.6:c.532C>T | ENSP00000409505.2:p.Pro178Ser | |
| ENST00000437637.6:c.532C>T | ENSP00000393709.2:p.Pro178Ser | |
| ENST00000437945.6:c.529C>T | ENSP00000401657.2:p.Pro177Ser | |
| ENST00000462132.6:c.532C>T | ENSP00000495770.1:p.Pro178Ser | |
| ENST00000223215.8:c.559C>T | ENSP00000223215.4:p.Pro187Ser | |
| ENST00000341441.9:c.532C>T | ENSP00000342749.4:p.Pro178Ser | |
| ENST00000378576.8:c.532C>T | ENSP00000367839.4:p.Pro178Ser | |
| ENST00000393187.5:c.532C>T | ENSP00000376884.1:p.Pro178Ser | |
| ENST00000416162.6:c.532C>T | ENSP00000408933.2:p.Pro178Ser | |
| ENST00000421001.5:c.532C>T | ENSP00000407222.2:p.Pro178Ser | |
| ENST00000427521.5:c.532C>T | ENSP00000409505.1:p.Pro178Ser | |
| ENST00000437945.5:c.559C>T | ENSP00000401657.1:p.Pro187Ser | |
| ENST00000462132.5:n.338C>T | ||
| ENST00000463263.1:c.133C>T | ENSP00000473492.1:p.Pro45Ser | |
| ENST00000488093.1:n.122C>T | ||
| ENST00000494868.1:n.134C>T | ||
| NM_001253900.1:c.517C>T | NP_001240829.1:p.Pro173Ser | |
| NM_001253901.1:c.532C>T | NP_001240830.1:p.Pro178Ser | |
| NM_001253902.1:c.532C>T | NP_001240831.1:p.Pro178Ser | |
| NM_002402.3:c.559C>T | NP_002393.2:p.Pro187Ser | |
| NM_177524.2:c.532C>T | NP_803490.1:p.Pro178Ser | |
| NM_177525.2:c.532C>T | NP_803491.1:p.Pro178Ser | |
| XM_011516222.1:c.559C>T | XP_011514524.1:p.Pro187Ser | |
| XM_011516222.2:c.559C>T | XP_011514524.1:p.Pro187Ser | |
| XM_017012218.2:c.532C>T | XP_016867707.1:p.Pro178Ser | |
| XM_024446764.1:c.532C>T | XP_024302532.1:p.Pro178Ser | |
| XM_024446765.1:c.532C>T | XP_024302533.1:p.Pro178Ser | |
| NM_002402.4:c.559C>T MANE Select | NP_002393.2:p.Pro187Ser |