Linked Data
dbSNP Id:
rs141845046
ExAC:
1:154987704 C / T
gnomAD v2:
1-154987704-C-T
gnomAD v3:
1-155015228-C-T
gnomAD v4:
1-155015228-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155015228C>T , CM000663.2:g.155015228C>T | GRCh38 |
| NC_000001.10:g.154987704C>T , CM000663.1:g.154987704C>T | GRCh37 |
| NC_000001.9:g.153254328C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535420.6:c.568C>T MANE Select | ENSP00000438647.1:p.Pro190Ser | |
| ENST00000292176.2:c.568C>T | ENSP00000292176.2:p.Pro190Ser | |
| ENST00000368426.3:c.568C>T | ENSP00000357411.3:p.Pro190Ser | |
| ENST00000417934.6:c.670C>T | ENSP00000406286.2:p.Pro224Ser | |
| ENST00000487542.1:n.792C>T | ||
| ENST00000535420.5:c.568C>T | ENSP00000438647.1:p.Pro190Ser | |
| NM_001252406.2:c.670C>T | NP_001239335.1:p.Pro224Ser | |
| NM_001256455.1:c.568C>T | NP_001243384.1:p.Pro190Ser | |
| NR_045515.1:n.955C>T | ||
| NR_046206.1:n.811C>T | ||
| NR_049765.1:n.732C>T | ||
| XM_006711349.2:c.568C>T | XP_006711412.2:p.Pro190Ser | |
| XM_006711353.1:c.568C>T | XP_006711416.1:p.Pro190Ser | |
| XM_006711354.1:c.568C>T | XP_006711417.1:p.Pro190Ser | |
| XM_006711356.2:c.568C>T | XP_006711419.1:p.Pro190Ser | |
| XM_006711357.1:c.568C>T | XP_006711420.1:p.Pro190Ser | |
| XM_006711358.1:c.568C>T | XP_006711421.1:p.Pro190Ser | |
| XM_006711359.1:c.568C>T | XP_006711422.1:p.Pro190Ser | |
| XM_011509598.1:c.670C>T | XP_011507900.1:p.Pro224Ser | |
| XM_011509599.1:c.568C>T | XP_011507901.1:p.Pro190Ser | |
| XM_006711356.3:c.568C>T | XP_006711419.1:p.Pro190Ser | |
| XM_006711359.2:c.568C>T | XP_006711422.1:p.Pro190Ser | |
| XM_011509598.2:c.670C>T | XP_011507900.1:p.Pro224Ser | |
| XM_011509599.2:c.568C>T | XP_011507901.1:p.Pro190Ser | |
| XM_017001399.1:c.841C>T | XP_016856888.1:p.Pro281Ser | |
| NM_001252406.3:c.670C>T | NP_001239335.1:p.Pro224Ser | |
| NM_001256455.2:c.568C>T MANE Select | NP_001243384.1:p.Pro190Ser | |
| NM_001377451.1:c.670C>T | NP_001364380.1:p.Pro224Ser | |
| NM_001377452.1:c.568C>T | NP_001364381.1:p.Pro190Ser | |
| NM_001377453.1:c.568C>T | NP_001364382.1:p.Pro190Ser | |
| NM_001377454.1:c.568C>T | NP_001364383.1:p.Pro190Ser | |
| NM_001377455.1:c.568C>T | NP_001364384.1:p.Pro190Ser |