Linked Data
dbSNP Id:
rs572020611
ExAC:
6:157469772 C / T
gnomAD v2:
6-157469772-C-T
gnomAD v3:
6-157148638-C-T
gnomAD v4:
6-157148638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148638C>T , CM000668.2:g.157148638C>T | GRCh38 |
| NC_000006.11:g.157469772C>T , CM000668.1:g.157469772C>T | GRCh37 |
| NC_000006.10:g.157511464C>T | NCBI36 |
| NG_032093.1:g.375709C>T | |
| NG_032093.2:g.375709C>T | |
| NG_066624.1:g.377613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2776C>T | ENSP00000055163.8:p.Pro926Ser | |
| ENST00000414678.8:c.2686C>T | ENSP00000412835.3:p.Pro896Ser | |
| ENST00000637015.2:c.2776C>T | ENSP00000489729.2:p.Pro926Ser | |
| ENST00000319584.11:c.790C>T | ENSP00000313006.7:p.Pro264Ser | |
| ENST00000346085.10:c.2815C>T | ENSP00000344546.5:p.Pro939Ser | |
| ENST00000350026.10:c.2527C>T | ENSP00000055163.7:p.Pro843Ser | |
| ENST00000414678.7:c.934C>T | ENSP00000412835.2:p.Pro312Ser | |
| ENST00000452544.2:n.677C>T | ||
| ENST00000635849.1:c.97C>T | ENSP00000490948.1:p.Pro33Ser | |
| ENST00000636930.2:c.2776C>T MANE Select | ENSP00000490491.2:p.Pro926Ser | |
| ENST00000637015.1:c.15C>T | ||
| ENST00000637810.1:c.277C>T | ENSP00000489636.1:p.Pro93Ser | |
| ENST00000637904.1:c.277C>T | ENSP00000490550.1:p.Pro93Ser | |
| ENST00000647938.1:c.2566C>T | ENSP00000498155.1:p.Pro856Ser | |
| ENST00000674190.1:n.1525C>T | ||
| ENST00000319584.10:c.793C>T | ENSP00000313006.6:p.Pro265Ser | |
| ENST00000346085.9:c.2566C>T | ENSP00000344546.4:p.Pro856Ser | |
| ENST00000350026.9:c.2527C>T | ENSP00000055163.7:p.Pro843Ser | |
| ENST00000414678.6:c.934C>T | ENSP00000412835.2:p.Pro312Ser | |
| ENST00000452544.1:n.623C>T | ||
| NM_017519.2:c.2527C>T | NP_059989.2:p.Pro843Ser | |
| NM_020732.3:c.2566C>T | NP_065783.3:p.Pro856Ser | |
| XM_005267069.3:c.2527C>T | XP_005267126.2:p.Pro843Ser | |
| XM_011535984.1:c.1477C>T | XP_011534286.1:p.Pro493Ser | |
| XM_011535985.1:c.1297C>T | XP_011534287.1:p.Pro433Ser | |
| XM_011535986.1:c.1057C>T | XP_011534288.1:p.Pro353Ser | |
| XM_011535987.1:c.676C>T | XP_011534289.1:p.Pro226Ser | |
| XM_011535988.1:c.-20+15431C>T | XP_011534290.1:n.-20+15431C>T | |
| NM_001346813.1:c.2527C>T | NP_001333742.1:p.Pro843Ser | |
| NM_001363725.1:c.277C>T | NP_001350654.1:p.Pro93Ser | |
| XM_011535984.2:c.2608C>T | XP_011534286.2:p.Pro870Ser | |
| XM_011535988.3:c.-20+15431C>T | XP_011534290.1:n.-20+15431C>T | |
| XM_017011103.2:c.2608C>T | XP_016866592.1:p.Pro870Ser | |
| XM_017011104.1:c.2608C>T | XP_016866593.1:p.Pro870Ser | |
| XM_017011105.2:c.2608C>T | XP_016866594.1:p.Pro870Ser | |
| XM_017011106.2:c.2608C>T | XP_016866595.1:p.Pro870Ser | |
| XM_017011107.2:c.2428C>T | XP_016866596.1:p.Pro810Ser | |
| XR_002956289.1:n.2691C>T | ||
| NM_001363725.2:c.277C>T | NP_001350654.1:p.Pro93Ser | |
| NM_001371656.1:c.2815C>T | NP_001358585.1:p.Pro939Ser | |
| NM_001374820.1:c.2815C>T | NP_001361749.1:p.Pro939Ser | |
| NM_001374828.1:c.2776C>T MANE Select | NP_001361757.1:p.Pro926Ser | |
| NM_017519.3:c.2776C>T | NP_059989.3:p.Pro926Ser |