BRCA Exchange:
Summary View
CA2545492302
Pop AF ACMG Code (provisional)
No code met (read depth, flags)
Revel Score:
ENST00000326524 (MANE Select)
0.617
ENST00000344622
0.617
ENST00000515058
0.617
ENST00000427982
0.617
ENST00000381826
0.617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37815827T>A , CM000667.2:g.37815827T>A | GRCh38 |
| NC_000005.9:g.37815929T>A , CM000667.1:g.37815929T>A | GRCh37 |
| NC_000005.8:g.37851686T>A | NCBI36 |
| NG_011675.2:g.28854A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326524.7:c.460A>T MANE Select | ENSP00000317145.2:p.Thr154Ser | |
| ENST00000326524.6:c.460A>T | ENSP00000317145.2:p.Thr154Ser | |
| ENST00000344622.8:c.382A>T | ENSP00000339703.4:p.Thr128Ser | |
| ENST00000381826.8:c.433A>T | ENSP00000371248.4:p.Thr145Ser | |
| ENST00000427982.5:c.511A>T | ENSP00000409007.1:p.Thr171Ser | |
| ENST00000515058.5:c.382A>T | ENSP00000425928.1:p.Thr128Ser | |
| ENST00000620847.1:c.304A>T | ENSP00000478722.1:p.Thr102Ser | |
| NM_000514.3:c.460A>T | NP_000505.1:p.Thr154Ser | |
| NM_001190468.1:c.511A>T | NP_001177397.1:p.Thr171Ser | |
| NM_001190469.1:c.433A>T | NP_001177398.1:p.Thr145Ser | |
| NM_001278098.1:c.304A>T | NP_001265027.1:p.Thr102Ser | |
| NM_199231.2:c.382A>T | NP_954701.1:p.Thr128Ser | |
| XM_011514028.1:c.460A>T | XP_011512330.1:p.Thr154Ser | |
| XM_011514029.1:c.460A>T | XP_011512331.1:p.Thr154Ser | |
| XM_011514030.1:c.304A>T | XP_011512332.1:p.Thr102Ser | |
| XM_011514030.3:c.304A>T | XP_011512332.1:p.Thr102Ser | |
| XM_017009337.2:c.382A>T | XP_016864826.1:p.Thr128Ser | |
| NM_000514.4:c.460A>T MANE Select | NP_000505.1:p.Thr154Ser |