Linked Data
dbSNP Id:
rs766372183
ExAC:
15:80454639 T / C
gnomAD v2:
15-80454639-T-C
gnomAD v3:
15-80162297-T-C
gnomAD v4:
15-80162297-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80162297T>C , CM000677.2:g.80162297T>C | GRCh38 |
| NC_000015.9:g.80454639T>C , CM000677.1:g.80454639T>C | GRCh37 |
| NC_000015.8:g.78241694T>C | NCBI36 |
| NG_012833.1:g.14299T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.416T>C | ENSP00000507680.1:p.Ile139Thr | |
| ENST00000682012.1:n.491T>C | ||
| ENST00000683593.1:n.2079T>C | ||
| ENST00000684363.1:c.365-95T>C | ENSP00000507314.1:n.365-95T>C | |
| ENST00000684569.1:n.461T>C | ||
| ENST00000561421.6:c.416T>C MANE Select | ENSP00000453347.2:p.Ile139Thr | |
| ENST00000646551.1:n.1903T>C | ||
| ENST00000261755.9:c.416T>C | ENSP00000261755.5:p.Ile139Thr | |
| ENST00000407106.5:c.416T>C | ENSP00000385080.1:p.Ile139Thr | |
| ENST00000537726.5:n.562T>C | ||
| ENST00000539156.5:c.206T>C | ENSP00000454271.1:p.Ile69Thr | |
| ENST00000558022.5:c.416T>C | ENSP00000453152.1:p.Ile139Thr | |
| ENST00000558627.1:n.344T>C | ||
| ENST00000558767.5:n.677T>C | ||
| ENST00000561369.1:n.560T>C | ||
| ENST00000561421.5:c.416T>C | ENSP00000453347.1:p.Ile139Thr | |
| NM_000137.2:c.416T>C | NP_000128.1:p.Ile139Thr | |
| XM_024449872.1:c.416T>C | XP_024305640.1:p.Ile139Thr | |
| NM_000137.4:c.416T>C MANE Select | NP_000128.1:p.Ile139Thr | |
| NM_001374377.1:c.416T>C | NP_001361306.1:p.Ile139Thr | |
| NM_001374380.1:c.416T>C | NP_001361309.1:p.Ile139Thr |