Linked Data
dbSNP Id:
rs374459474
ExAC:
11:128680592 T / G
gnomAD v2:
11-128680592-T-G
gnomAD v4:
11-128810697-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810697T>G , CM000673.2:g.128810697T>G | GRCh38 |
| NC_000011.9:g.128680592T>G , CM000673.1:g.128680592T>G | GRCh37 |
| NC_000011.8:g.128185802T>G | NCBI36 |
| NG_032912.1:g.129163T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1089T>G | ENSP00000513017.1:p.Tyr363Ter | |
| ENST00000527786.7:c.1068T>G MANE Select | ENSP00000433488.2:p.Tyr356Ter | |
| ENST00000281428.12:c.870T>G | ENSP00000281428.8:p.Tyr290Ter | |
| ENST00000344954.10:c.489T>G | ENSP00000339627.7:p.Tyr163Ter | |
| ENST00000429175.7:c.*990T>G | ENSP00000399985.3:n.*990T>G | |
| ENST00000527786.6:c.1068T>G | ENSP00000433488.2:p.Tyr356Ter | |
| ENST00000528790.1:n.3651T>G | ||
| ENST00000534087.3:c.969T>G | ENSP00000432950.1:p.Tyr323Ter | |
| ENST00000608303.5:c.*460T>G | ENSP00000477262.1:n.*460T>G | |
| NM_001167681.2:c.969T>G | NP_001161153.1:p.Tyr323Ter | |
| NM_001271010.1:c.870T>G | NP_001257939.1:p.Tyr290Ter | |
| NM_001271012.1:c.489T>G | NP_001257941.1:p.Tyr163Ter | |
| NM_002017.4:c.1068T>G | NP_002008.2:p.Tyr356Ter | |
| XM_011542701.1:c.969T>G | XP_011541003.1:p.Tyr323Ter | |
| XM_011542702.1:c.942T>G | XP_011541004.1:p.Tyr314Ter | |
| XM_011542701.2:c.969T>G | XP_011541003.1:p.Tyr323Ter | |
| XM_017017405.1:c.969T>G | XP_016872894.1:p.Tyr323Ter | |
| XM_017017406.1:c.969T>G | XP_016872895.1:p.Tyr323Ter | |
| NM_002017.5:c.1068T>G MANE Select | NP_002008.2:p.Tyr356Ter | |
| NM_001167681.3:c.969T>G | NP_001161153.1:p.Tyr323Ter | |
| NM_001271010.2:c.870T>G | NP_001257939.1:p.Tyr290Ter | |
| NM_001271012.2:c.489T>G | NP_001257941.1:p.Tyr163Ter |