Linked Data
ClinVar Variation Id:
6611
dbSNP Id:
rs28938175
gnomAD v2:
14-31346846-C-T
gnomAD v4:
14-30877640-C-T
ERepo:
CA253889/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30877640C>T , CM000676.2:g.30877640C>T | GRCh38 |
| NC_000014.8:g.31346846C>T , CM000676.1:g.31346846C>T | GRCh37 |
| NC_000014.7:g.30416597C>T | NCBI36 |
| NG_008211.2:g.8106C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.346C>T | ENSP00000216361.5:p.Pro116Ser | |
| ENST00000396618.9:c.151C>T MANE Select | ENSP00000379862.3:p.Pro51Ser | |
| ENST00000555117.2:c.151C>T | ENSP00000493569.1:p.Pro51Ser | |
| ENST00000643575.1:c.151C>T | ENSP00000494838.1:p.Pro51Ser | |
| ENST00000643697.1:n.396C>T | ||
| ENST00000644874.2:c.151C>T | ENSP00000496360.1:p.Pro51Ser | |
| ENST00000216361.8:c.151C>T | ENSP00000216361.4:p.Pro51Ser | |
| ENST00000396618.7:c.151C>T | ENSP00000379862.3:p.Pro51Ser | |
| ENST00000460581.6:c.-186C>T | ENSP00000451713.1:n.-186C>T | |
| ENST00000475087.5:c.151C>T | ENSP00000451528.1:p.Pro51Ser | |
| ENST00000553772.5:c.151C>T | ENSP00000452343.1:p.Pro51Ser | |
| ENST00000553833.5:n.305C>T | ||
| ENST00000555881.5:c.82+2537C>T | ENSP00000452569.1:n.82+2537C>T | |
| ENST00000556908.5:c.103C>T | ENSP00000452541.1:p.Pro35Ser | |
| ENST00000557065.1:c.67C>T | ENSP00000451629.1:p.Pro23Ser | |
| NM_001135058.1:c.151C>T | NP_001128530.1:p.Pro51Ser | |
| NM_004086.2:c.151C>T | NP_004077.1:p.Pro51Ser | |
| NR_038356.1:n.1618-1088G>A | ||
| XM_011536539.1:c.151C>T | XP_011534841.1:p.Pro51Ser | |
| NM_001347720.1:c.346C>T | NP_001334649.1:p.Pro116Ser | |
| XM_017021071.1:c.346C>T | XP_016876560.1:p.Pro116Ser | |
| XM_024449506.1:c.151C>T | XP_024305274.1:p.Pro51Ser | |
| NM_004086.3:c.151C>T MANE Select | NP_004077.1:p.Pro51Ser | |
| NM_001135058.2:c.151C>T | NP_001128530.1:p.Pro51Ser | |
| NM_001347720.2:c.346C>T | NP_001334649.1:p.Pro116Ser |