Linked Data
dbSNP Id:
rs758863296
ExAC:
14:77753095 A / G
gnomAD v2:
14-77753095-A-G
gnomAD v4:
14-77286752-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77286752A>G , CM000676.2:g.77286752A>G | GRCh38 |
| NC_000014.8:g.77753095A>G , CM000676.1:g.77753095A>G | GRCh37 |
| NC_000014.7:g.76822848A>G | NCBI36 |
| NG_008897.1:g.39131T>C , LRG_844:g.39131T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.865T>C | ENSP00000451967.2:p.Tyr289His | |
| ENST00000682247.1:c.1324T>C | ENSP00000507213.1:p.Tyr442His | |
| ENST00000682382.1:c.896T>C | ||
| ENST00000682395.1:n.1502T>C | ||
| ENST00000682459.1:n.1027T>C | ||
| ENST00000682467.1:c.1324T>C | ENSP00000508062.1:p.Tyr442His | |
| ENST00000682706.1:n.101T>C | ||
| ENST00000682795.1:c.1324T>C | ENSP00000507574.1:p.Tyr442His | |
| ENST00000682895.1:n.1040T>C | ||
| ENST00000682955.1:n.612T>C | ||
| ENST00000683188.1:c.1299T>C | ||
| ENST00000683328.1:c.317T>C | ENSP00000508096.1:n.317T>C | |
| ENST00000683380.1:n.988T>C | ||
| ENST00000683828.1:c.1033T>C | ||
| ENST00000684259.1:n.1175T>C | ||
| ENST00000684444.1:c.71T>C | ||
| ENST00000684549.1:n.875T>C | ||
| ENST00000261534.9:c.1324T>C MANE Select | ENSP00000261534.4:p.Tyr442His | |
| ENST00000261534.8:c.1324T>C | ENSP00000261534.4:p.Tyr442His | |
| ENST00000452340.7:n.1347T>C | ||
| ENST00000553880.5:n.195T>C | ||
| ENST00000554767.5:n.2110T>C | ||
| ENST00000554884.5:n.316T>C | ||
| ENST00000556404.1:n.458T>C | ||
| ENST00000556851.1:n.360T>C | ||
| ENST00000557675.5:n.414T>C | ||
| NM_013382.5:c.1324T>C , LRG_844t1:c.1324T>C | NP_037514.2:p.Tyr442His | |
| XM_011536675.1:c.1324T>C | XP_011534977.1:p.Tyr442His | |
| XM_011536676.1:c.991T>C | XP_011534978.1:p.Tyr331His | |
| XM_011536677.1:c.865T>C | XP_011534979.1:p.Tyr289His | |
| XM_011536678.1:c.1324T>C | XP_011534980.1:p.Tyr442His | |
| XM_011536679.1:c.418T>C | XP_011534981.1:p.Tyr140His | |
| XR_943416.1:n.1527T>C | ||
| XM_011536675.2:c.1324T>C | XP_011534977.1:p.Tyr442His | |
| XM_011536676.2:c.991T>C | XP_011534978.1:p.Tyr331His | |
| XM_011536677.3:c.865T>C | XP_011534979.1:p.Tyr289His | |
| XR_001750279.1:n.1524T>C | ||
| XR_001750282.1:n.1977T>C | ||
| XR_943416.3:n.1525T>C | ||
| NM_013382.6:c.1324T>C | NP_037514.2:p.Tyr442His | |
| NM_013382.7:c.1324T>C MANE Select | NP_037514.2:p.Tyr442His |