Linked Data
dbSNP Id:
rs1245889696
gnomAD v2:
12-102179886-G-A
gnomAD v3:
12-101786108-G-A
gnomAD v4:
12-101786108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786108G>A , CM000674.2:g.101786108G>A | GRCh38 |
| NC_000012.11:g.102179886G>A , CM000674.1:g.102179886G>A | GRCh37 |
| NC_000012.10:g.100704017G>A | NCBI36 |
| NG_021243.1:g.49760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.475C>T MANE Select | ENSP00000299314.7:p.Pro159Ser | |
| ENST00000299314.11:c.475C>T | ENSP00000299314.7:p.Pro159Ser | |
| ENST00000549940.5:c.475C>T | ENSP00000449150.1:p.Pro159Ser | |
| ENST00000550352.1:n.269C>T | ||
| ENST00000552681.1:c.109C>T | ENSP00000449217.1:p.Pro37Ser | |
| NM_024312.4:c.475C>T | NP_077288.2:p.Pro159Ser | |
| XM_006719593.2:c.475C>T | XP_006719656.1:p.Pro159Ser | |
| XM_011538731.1:c.394C>T | XP_011537033.1:p.Pro132Ser | |
| XM_006719593.3:c.475C>T | XP_006719656.1:p.Pro159Ser | |
| XM_011538731.2:c.394C>T | XP_011537033.1:p.Pro132Ser | |
| XM_017019961.1:c.259C>T | XP_016875450.1:p.Pro87Ser | |
| XM_017019962.2:c.-876C>T | XP_016875451.1:n.-876C>T | |
| NM_024312.5:c.475C>T MANE Select | NP_077288.2:p.Pro159Ser |