Linked Data
dbSNP Id:
rs773300664
ExAC:
14:20925324 T / C
gnomAD v2:
14-20925324-T-C
gnomAD v4:
14-20457165-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457165T>C , CM000676.2:g.20457165T>C | GRCh38 |
| NC_000014.8:g.20925324T>C , CM000676.1:g.20925324T>C | GRCh37 |
| NC_000014.7:g.19995164T>C | NCBI36 |
| NG_008718.1:g.7035T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.614T>C MANE Select | ENSP00000216714.3:p.Leu205Pro | |
| ENST00000216714.7:c.614T>C | ENSP00000216714.3:p.Leu205Pro | |
| ENST00000398030.8:c.614T>C | ENSP00000381111.4:p.Leu205Pro | |
| ENST00000438886.1:c.394T>C | ||
| ENST00000553555.5:n.1034T>C | ||
| ENST00000553681.5:c.614T>C | ENSP00000451327.1:p.Leu205Pro | |
| ENST00000555414.5:c.614T>C | ENSP00000451979.1:p.Leu205Pro | |
| ENST00000555839.5:c.527T>C | ENSP00000452460.1:p.Leu176Pro | |
| ENST00000557054.1:c.*25T>C | ENSP00000452212.2:n.*25T>C | |
| ENST00000557159.5:n.1230T>C | ||
| ENST00000557365.1:n.694T>C | ||
| NM_001244249.1:c.614T>C | NP_001231178.1:p.Leu205Pro | |
| NM_001641.3:c.614T>C | NP_001632.2:p.Leu205Pro | |
| NM_080648.2:c.614T>C | NP_542379.1:p.Leu205Pro | |
| NM_080649.2:c.614T>C | NP_542380.1:p.Leu205Pro | |
| XM_005267581.3:c.614T>C | XP_005267638.1:p.Leu205Pro | |
| XM_005267582.3:c.563T>C | XP_005267639.1:p.Leu188Pro | |
| NM_001641.4:c.614T>C MANE Select | NP_001632.2:p.Leu205Pro | |
| NM_001244249.2:c.614T>C | NP_001231178.1:p.Leu205Pro | |
| NM_080648.3:c.614T>C | NP_542379.1:p.Leu205Pro | |
| NM_080649.3:c.614T>C | NP_542380.1:p.Leu205Pro |