Linked Data
ClinVar Variation Id:
502508
ClinVar RCV Id:
RCV000596950
dbSNP Id:
rs376898832
ExAC:
2:110881367 G / A
gnomAD v2:
2-110881367-G-A
gnomAD v3:
2-110123790-G-A
gnomAD v4:
2-110123790-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110123790G>A , CM000664.2:g.110123790G>A | GRCh38 |
| NC_000002.11:g.110881367G>A , CM000664.1:g.110881367G>A | GRCh37 |
| NC_000002.10:g.110238656G>A | NCBI36 |
| NG_008287.1:g.86273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.*1C>T MANE Select | ENSP00000389879.3:n.*1C>T | |
| ENST00000674677.1:c.3653C>T | ENSP00000502265.1:n.3653C>T | |
| ENST00000675067.1:c.*1C>T | ENSP00000502817.1:n.*1C>T | |
| ENST00000675294.1:n.6284C>T | ||
| ENST00000675356.1:n.2713C>T | ||
| ENST00000675632.1:n.3439C>T | ||
| ENST00000675752.1:n.3873C>T | ||
| ENST00000676028.1:c.*1C>T | ENSP00000502639.1:n.*1C>T | |
| ENST00000676053.1:c.*1C>T | ENSP00000502475.1:n.*1C>T | |
| ENST00000676091.1:c.1231C>T | ENSP00000502528.1:n.1231C>T | |
| ENST00000676165.1:n.3698C>T | ||
| ENST00000316534.8:c.*1C>T | ENSP00000313169.4:n.*1C>T | |
| ENST00000355301.8:c.*1C>T | ENSP00000347452.4:n.*1C>T | |
| ENST00000393272.7:c.*1C>T | ENSP00000376953.3:n.*1C>T | |
| ENST00000417665.5:c.*1C>T | ENSP00000402176.1:n.*1C>T | |
| ENST00000445609.6:c.*1C>T | ENSP00000389879.2:n.*1C>T | |
| ENST00000461707.5:n.3620C>T | ||
| ENST00000496524.5:n.9564C>T | ||
| NM_000272.3:c.*1C>T | NP_000263.2:n.*1C>T | |
| NM_001128178.1:c.*1C>T | NP_001121650.1:n.*1C>T | |
| NM_001128179.1:c.*1C>T | NP_001121651.1:n.*1C>T | |
| NM_207181.2:c.*1C>T | NP_997064.2:n.*1C>T | |
| XM_005263675.1:c.*1C>T | XP_005263732.1:n.*1C>T | |
| XM_005263676.1:c.*1C>T | XP_005263733.1:n.*1C>T | |
| XM_005263677.1:c.*1C>T | XP_005263734.1:n.*1C>T | |
| XM_005263678.2:c.*277C>T | XP_005263735.1:n.*277C>T | |
| XM_005263679.1:c.*1C>T | XP_005263736.1:n.*1C>T | |
| XM_006712551.1:c.*1C>T | XP_006712614.1:n.*1C>T | |
| XM_017004218.1:c.*277C>T | XP_016859707.1:n.*277C>T | |
| NM_000272.4:c.*1C>T | NP_000263.2:n.*1C>T | |
| NM_001128178.3:c.*1C>T MANE Select | NP_001121650.1:n.*1C>T | |
| NM_001128179.2:c.*1C>T | NP_001121651.1:n.*1C>T | |
| NM_001374256.1:c.*1C>T | NP_001361185.1:n.*1C>T | |
| NM_001374257.1:c.*277C>T | NP_001361186.1:n.*277C>T | |
| NM_207181.3:c.*1C>T | NP_997064.2:n.*1C>T | |
| NM_000272.5:c.*1C>T | NP_000263.2:n.*1C>T | |
| NM_001128179.3:c.*1C>T | NP_001121651.1:n.*1C>T | |
| NM_207181.4:c.*1C>T | NP_997064.2:n.*1C>T |