Linked Data
dbSNP Id:
rs1942914313
gnomAD v4:
11-128810658-T-C
MyVariant Identifiers:
chr11:g.128680553T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810658T>C , CM000673.2:g.128810658T>C | GRCh38 |
| NC_000011.9:g.128680553T>C , CM000673.1:g.128680553T>C | GRCh37 |
| NC_000011.8:g.128185763T>C | NCBI36 |
| NG_032912.1:g.129124T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1050T>C | ENSP00000513017.1:p.Tyr350= | |
| ENST00000527786.7:c.1029T>C MANE Select | ENSP00000433488.2:p.Tyr343= | |
| ENST00000281428.12:c.831T>C | ENSP00000281428.8:p.Tyr277= | |
| ENST00000344954.10:c.450T>C | ENSP00000339627.7:p.Tyr150= | |
| ENST00000429175.7:c.*951T>C | ENSP00000399985.3:n.*951T>C | |
| ENST00000527786.6:c.1029T>C | ENSP00000433488.2:p.Tyr343= | |
| ENST00000528790.1:n.3612T>C | ||
| ENST00000534087.3:c.930T>C | ENSP00000432950.1:p.Tyr310= | |
| ENST00000608303.5:c.*421T>C | ENSP00000477262.1:n.*421T>C | |
| NM_001167681.2:c.930T>C | NP_001161153.1:p.Tyr310= | |
| NM_001271010.1:c.831T>C | NP_001257939.1:p.Tyr277= | |
| NM_001271012.1:c.450T>C | NP_001257941.1:p.Tyr150= | |
| NM_002017.4:c.1029T>C | NP_002008.2:p.Tyr343= | |
| XM_011542701.1:c.930T>C | XP_011541003.1:p.Tyr310= | |
| XM_011542702.1:c.903T>C | XP_011541004.1:p.Tyr301= | |
| XM_011542701.2:c.930T>C | XP_011541003.1:p.Tyr310= | |
| XM_017017405.1:c.930T>C | XP_016872894.1:p.Tyr310= | |
| XM_017017406.1:c.930T>C | XP_016872895.1:p.Tyr310= | |
| NM_002017.5:c.1029T>C MANE Select | NP_002008.2:p.Tyr343= | |
| NM_001167681.3:c.930T>C | NP_001161153.1:p.Tyr310= | |
| NM_001271010.2:c.831T>C | NP_001257939.1:p.Tyr277= | |
| NM_001271012.2:c.450T>C | NP_001257941.1:p.Tyr150= |