Linked Data
dbSNP Id:
rs780717943
ExAC:
1:196712691 T / C
gnomAD v2:
1-196712691-T-C
gnomAD v4:
1-196743561-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196743561T>C , CM000663.2:g.196743561T>C | GRCh38 |
| NC_000001.10:g.196712691T>C , CM000663.1:g.196712691T>C | GRCh37 |
| NC_000001.9:g.194979314T>C | NCBI36 |
| NG_007259.1:g.96551T>C , LRG_47:g.96551T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4271T>C | ||
| ENST00000695970.1:c.3069T>C | ENSP00000512297.1:p.Tyr1023= | |
| ENST00000695971.1:c.3222T>C | ENSP00000512298.1:p.Tyr1074= | |
| ENST00000695972.1:c.*320T>C | ENSP00000512299.1:n.*320T>C | |
| ENST00000695973.1:c.*1607T>C | ENSP00000512300.1:n.*1607T>C | |
| ENST00000695974.1:c.3066T>C | ENSP00000512301.1:p.Tyr1022= | |
| ENST00000695975.1:c.*1370T>C | ENSP00000512302.1:n.*1370T>C | |
| ENST00000695976.1:c.3054T>C | ENSP00000512303.1:p.Tyr1018= | |
| ENST00000695981.1:c.3243T>C | ENSP00000512306.1:p.Tyr1081= | |
| ENST00000695984.1:c.1251T>C | ENSP00000512309.1:p.Tyr417= | |
| ENST00000695986.1:c.*2894T>C | ENSP00000512311.1:n.*2894T>C | |
| ENST00000696026.1:c.*1525T>C | ENSP00000512335.1:n.*1525T>C | |
| ENST00000696027.1:c.3237T>C | ENSP00000512336.1:p.Tyr1079= | |
| ENST00000696028.1:c.3171T>C | ENSP00000512337.1:p.Tyr1057= | |
| ENST00000696029.1:c.3237T>C | ENSP00000512338.1:p.Tyr1079= | |
| ENST00000696031.1:c.*2761T>C | ENSP00000512340.1:n.*2761T>C | |
| ENST00000696032.1:c.3243T>C | ENSP00000512341.1:p.Tyr1081= | |
| ENST00000696033.1:c.1160-36236T>C | ENSP00000512342.1:n.1160-36236T>C | |
| ENST00000367429.9:c.3243T>C MANE Select | ENSP00000356399.4:p.Tyr1081= | |
| ENST00000367429.8:c.3243T>C | ENSP00000356399.4:p.Tyr1081= | |
| ENST00000466229.5:n.6341T>C | ||
| NM_000186.3:c.3243T>C , LRG_47t1:c.3243T>C | NP_000177.2:p.Tyr1081= | |
| XR_001737134.2:n.3429T>C | ||
| NM_000186.4:c.3243T>C MANE Select | NP_000177.2:p.Tyr1081= |