Revel Score:
ENST00000376695
0.014
ENST00000376694 (MANE Select)
0.014
ENST00000433744
0.014
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30171922G>C , CM000668.2:g.30171922G>C | GRCh38 |
| NC_000006.11:g.30139699G>C , CM000668.1:g.30139699G>C | GRCh37 |
| NC_000006.10:g.30247678G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376694.9:c.971G>C MANE Select | ENSP00000365884.4:p.Ser324Thr | |
| ENST00000376688.2:c.305-642G>C | ENSP00000365878.2:n.305-642G>C | |
| ENST00000376694.8:c.971G>C | ENSP00000365884.4:p.Ser324Thr | |
| ENST00000433744.1:c.458G>C | ||
| ENST00000619857.4:c.764G>C | ENSP00000484001.1:p.Ser255Thr | |
| NM_033229.2:c.971G>C | NP_150232.2:p.Ser324Thr | |
| XM_011514987.1:c.656G>C | XP_011513289.1:p.Ser219Thr | |
| XM_011514988.1:c.350G>C | XP_011513290.1:p.Ser117Thr | |
| XM_011514988.2:c.350G>C | XP_011513290.1:p.Ser117Thr | |
| NM_033229.3:c.971G>C MANE Select | NP_150232.2:p.Ser324Thr |