Linked Data
dbSNP Id:
rs746369671
ExAC:
8:94935866 T / C
gnomAD v2:
8-94935866-T-C
gnomAD v4:
8-93923638-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93923638T>C , CM000670.2:g.93923638T>C | GRCh38 |
| NC_000008.10:g.94935866T>C , CM000670.1:g.94935866T>C | GRCh37 |
| NC_000008.9:g.95005042T>C | NCBI36 |
| NG_012233.1:g.11705T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.1579T>C MANE Select | ENSP00000297598.4:p.Ser527Pro | |
| ENST00000297598.4:c.1579T>C | ENSP00000297598.4:p.Ser527Pro | |
| ENST00000396200.3:c.1654T>C | ENSP00000379503.3:p.Ser552Pro | |
| ENST00000517764.1:c.1579T>C | ENSP00000430380.1:p.Ser527Pro | |
| ENST00000520728.5:c.1579T>C | ENSP00000428317.1:p.Ser527Pro | |
| NM_001161779.1:c.1654T>C | NP_001155251.1:p.Ser552Pro | |
| NM_001161780.1:c.1654T>C | NP_001155252.1:p.Ser552Pro | |
| NM_001161781.1:c.1579T>C | NP_001155253.1:p.Ser527Pro | |
| NM_018444.3:c.1579T>C | NP_060914.2:p.Ser527Pro | |
| XM_011517135.1:c.1633T>C | XP_011515437.1:p.Ser545Pro | |
| XM_011517136.1:c.1579T>C | XP_011515438.1:p.Ser527Pro | |
| XM_011517137.1:c.1579T>C | XP_011515439.1:p.Ser527Pro | |
| XM_011517135.2:c.1633T>C | XP_011515437.1:p.Ser545Pro | |
| XM_011517136.2:c.1579T>C | XP_011515438.1:p.Ser527Pro | |
| XM_017013588.1:c.1741T>C | XP_016869077.1:p.Ser581Pro | |
| NM_018444.4:c.1579T>C MANE Select | NP_060914.2:p.Ser527Pro | |
| NM_001161780.2:c.1654T>C | NP_001155252.1:p.Ser552Pro | |
| NM_001161781.2:c.1579T>C | NP_001155253.1:p.Ser527Pro | |
| NM_001161779.2:c.1654T>C | NP_001155251.1:p.Ser552Pro |