Linked Data
dbSNP Id:
rs769634718
ExAC:
6:149699210 T / C
gnomAD v2:
6-149699210-T-C
gnomAD v3:
6-149378074-T-C
gnomAD v4:
6-149378074-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149378074T>C , CM000668.2:g.149378074T>C | GRCh38 |
| NC_000006.11:g.149699210T>C , CM000668.1:g.149699210T>C | GRCh37 |
| NC_000006.10:g.149740903T>C | NCBI36 |
| NG_021386.1:g.64775T>C | |
| NG_021386.2:g.165151T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703212.1:n.574T>C | ||
| ENST00000703213.1:c.159T>C | ENSP00000515239.1:p.Tyr53= | |
| ENST00000636456.1:c.-96-598T>C | ENSP00000490379.1:n.-96-598T>C | |
| ENST00000637181.2:c.159T>C MANE Select | ENSP00000490618.1:p.Tyr53= | |
| ENST00000367456.5:c.159T>C | ENSP00000356426.1:p.Tyr53= | |
| ENST00000470466.5:c.159T>C | ENSP00000432709.1:p.Tyr53= | |
| ENST00000538427.5:c.159T>C | ENSP00000445752.1:p.Tyr53= | |
| ENST00000606202.1:c.-64T>C | ENSP00000476139.1:n.-64T>C | |
| NM_001292034.2:c.159T>C | NP_001278963.1:p.Tyr53= | |
| NM_001292035.2:c.63T>C | NP_001278964.1:p.Tyr21= | |
| NM_015093.5:c.159T>C | NP_055908.1:p.Tyr53= | |
| XM_006715403.2:c.159T>C | XP_006715466.1:p.Tyr53= | |
| XM_011535633.1:c.159T>C | XP_011533935.1:p.Tyr53= | |
| XM_011535634.1:c.159T>C | XP_011533936.1:p.Tyr53= | |
| XM_011535633.2:c.159T>C | XP_011533935.1:p.Tyr53= | |
| XM_017010591.1:c.159T>C | XP_016866080.1:p.Tyr53= | |
| XM_017010592.2:c.159T>C | XP_016866081.1:p.Tyr53= | |
| NM_001292034.3:c.159T>C MANE Select | NP_001278963.1:p.Tyr53= | |
| NM_001292035.3:c.63T>C | NP_001278964.1:p.Tyr21= | |
| NM_001369506.1:c.159T>C | NP_001356435.1:p.Tyr53= | |
| NM_015093.6:c.159T>C | NP_055908.1:p.Tyr53= |