Linked Data
ClinVar Variation Id:
373223
dbSNP Id:
rs368522117
ExAC:
17:48248025 C / T
gnomAD v2:
17-48248025-C-T
gnomAD v3:
17-50170664-C-T
gnomAD v4:
17-50170664-C-T
COSMIC:
COSM980946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50170664C>T , CM000679.2:g.50170664C>T | GRCh38 |
| NC_000017.10:g.48248025C>T , CM000679.1:g.48248025C>T | GRCh37 |
| NC_000017.9:g.45603024C>T | NCBI36 |
| NG_008889.1:g.9660C>T , LRG_203:g.9660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.831C>T | ENSP00000422030.2:p.Ser277= | |
| ENST00000511303.6:n.334C>T | ||
| ENST00000512526.2:c.600C>T | ENSP00000426606.2:n.600C>T | |
| ENST00000682109.1:c.861C>T | ENSP00000508041.1:p.Ser287= | |
| ENST00000683226.1:n.1579C>T | ||
| ENST00000683294.1:c.*84C>T | ENSP00000508134.1:n.*84C>T | |
| ENST00000683544.1:n.635C>T | ||
| ENST00000262018.8:c.981C>T MANE Select | ENSP00000262018.3:p.Ser327= | |
| ENST00000262018.7:c.981C>T | ENSP00000262018.3:p.Ser327= | |
| ENST00000344627.10:c.609C>T | ENSP00000345522.6:p.Ser203= | |
| ENST00000504073.1:c.298C>T | ||
| ENST00000511303.5:c.330C>T | ENSP00000426104.1:p.Ser110= | |
| ENST00000512526.1:c.444C>T | ||
| ENST00000513821.5:c.772C>T | ENSP00000426571.1:p.Arg258Ter | |
| ENST00000513942.5:n.400C>T | ||
| NM_000023.2:c.981C>T , LRG_203t1:c.981C>T | NP_000014.1:p.Ser327= | |
| NM_001135697.1:c.609C>T | NP_001129169.1:p.Ser203= | |
| XM_011525120.1:c.981C>T | XP_011523422.1:p.Ser327= | |
| XM_011525121.1:c.831C>T | XP_011523423.1:p.Ser277= | |
| XM_011525122.1:c.772C>T | XP_011523424.1:p.Arg258Ter | |
| XM_011525123.1:c.609C>T | XP_011523425.1:p.Ser203= | |
| XM_011525124.1:c.675C>T | XP_011523426.1:p.Ser225= | |
| XR_934517.1:n.838C>T | ||
| NM_000023.3:c.981C>T | NP_000014.1:p.Ser327= | |
| NM_001135697.2:c.609C>T | NP_001129169.1:p.Ser203= | |
| NR_135553.1:n.828C>T | ||
| XM_011525120.2:c.1143C>T | XP_011523422.2:p.Ser381= | |
| XM_011525121.2:c.993C>T | XP_011523423.2:p.Ser331= | |
| XM_011525122.2:c.934C>T | XP_011523424.2:p.Arg312Ter | |
| XM_011525123.2:c.771C>T | XP_011523425.2:p.Ser257= | |
| XM_011525124.2:c.675C>T | XP_011523426.1:p.Ser225= | |
| XM_024450873.1:c.675C>T | XP_024306641.1:p.Ser225= | |
| XR_002958056.1:n.1578C>T | ||
| NM_000023.4:c.981C>T MANE Select | NP_000014.1:p.Ser327= | |
| NM_001135697.3:c.609C>T | NP_001129169.1:p.Ser203= | |
| NR_135553.2:n.808C>T |