ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114394817G>T , CM000674.2:g.114394817G>T | GRCh38 |
| NC_000012.11:g.114832622G>T , CM000674.1:g.114832622G>T | GRCh37 |
| NC_000012.10:g.113317005G>T | NCBI36 |
| NG_007373.1:g.18626C>A , LRG_670:g.18626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405440.7:c.587C>A MANE Select | ENSP00000384152.3:p.Ser196Ter | |
| ENST00000310346.8:c.587C>A | ENSP00000309913.4:p.Ser196Ter | |
| ENST00000349716.9:c.437C>A | ENSP00000337723.5:p.Ser146Ter | |
| ENST00000405440.6:c.587C>A | ENSP00000384152.2:p.Ser196Ter | |
| ENST00000526441.1:c.587C>A | ENSP00000433292.1:p.Ser196Ter | |
| NM_000192.3:c.587C>A , LRG_670t1:c.587C>A | NP_000183.2:p.Ser196Ter | |
| NM_080717.2:c.437C>A | NP_542448.1:p.Ser146Ter | |
| NM_181486.2:c.587C>A | NP_852259.1:p.Ser196Ter | |
| XM_017019912.1:c.635C>A | XP_016875401.1:p.Ser212Ter | |
| NM_080717.3:c.437C>A | NP_542448.1:p.Ser146Ter | |
| NM_181486.4:c.587C>A MANE Select | NP_852259.1:p.Ser196Ter | |
| NM_080717.4:c.437C>A | NP_542448.1:p.Ser146Ter |