Linked Data
dbSNP Id:
rs759938254
ExAC:
6:137219299 C / T
gnomAD v2:
6-137219299-C-T
gnomAD v4:
6-136898161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898161C>T , CM000668.2:g.136898161C>T | GRCh38 |
| NC_000006.11:g.137219299C>T , CM000668.1:g.137219299C>T | GRCh37 |
| NC_000006.10:g.137260992C>T | NCBI36 |
| NG_008462.1:g.80582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.823C>T MANE Select | ENSP00000315680.3:p.Pro275Ser | |
| ENST00000541292.6:c.*88C>T | ENSP00000441004.1:n.*88C>T | |
| ENST00000678002.1:c.511C>T | ||
| ENST00000678557.1:c.709C>T | ENSP00000502962.1:p.Pro237Ser | |
| ENST00000679286.1:c.703C>T | ENSP00000503168.1:p.Pro235Ser | |
| ENST00000318471.4:c.823C>T | ENSP00000315680.3:p.Pro275Ser | |
| NM_000288.3:c.823C>T | NP_000279.1:p.Pro275Ser | |
| XM_005267019.3:c.709C>T | XP_005267076.1:p.Pro237Ser | |
| XM_006715502.1:c.529C>T | XP_006715565.1:p.Pro177Ser | |
| XM_011535900.1:c.546C>T | XP_011534202.1:p.Ser182= | |
| XM_005267019.4:c.709C>T | XP_005267076.1:p.Pro237Ser | |
| XM_006715502.2:c.529C>T | XP_006715565.1:p.Pro177Ser | |
| XM_017010934.2:c.546C>T | XP_016866423.1:p.Ser182= | |
| NM_000288.4:c.823C>T MANE Select | NP_000279.1:p.Pro275Ser |