Revel Score:
ENST00000393562 (MANE Select)
0.935
ENST00000291567
0.935
ENST00000393564
0.935
ENST00000369620
0.935
ENST00000439227
0.935
ENST00000440967
0.935
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154533634C>T , CM000685.2:g.154533634C>T | GRCh38 |
| NC_000023.10:g.153761849C>T , CM000685.1:g.153761849C>T | GRCh37 |
| NC_000023.9:g.153415043C>T | NCBI36 |
| NG_009015.2:g.18939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393564.7:c.806G>A | ENSP00000377194.2:p.Cys269Tyr | |
| ENST00000439227.6:c.809G>A | ENSP00000395599.2:p.Cys270Tyr | |
| ENST00000696420.1:c.806G>A | ENSP00000512615.1:p.Cys269Tyr | |
| ENST00000696421.1:c.806G>A | ENSP00000512616.1:p.Cys269Tyr | |
| ENST00000696422.1:c.669G>A | ||
| ENST00000696423.1:c.672G>A | ||
| ENST00000696424.1:c.658G>A | ENSP00000512619.1:p.Val220Ile | |
| ENST00000696425.1:c.806G>A | ENSP00000512620.1:p.Cys269Tyr | |
| ENST00000696426.1:c.806G>A | ENSP00000512621.1:p.Cys269Tyr | |
| ENST00000696427.1:c.806G>A | ENSP00000512622.1:p.Cys269Tyr | |
| ENST00000696428.1:c.*648G>A | ENSP00000512623.1:n.*648G>A | |
| ENST00000696429.1:c.806G>A | ENSP00000512624.1:p.Cys269Tyr | |
| ENST00000696430.1:c.806G>A | ENSP00000512625.1:p.Cys269Tyr | |
| ENST00000393562.10:c.806G>A MANE Select | ENSP00000377192.3:p.Cys269Tyr | |
| ENST00000369620.6:c.944G>A | ENSP00000358633.2:p.Cys315Tyr | |
| ENST00000393562.6:c.896G>A | ENSP00000377192.2:p.Cys299Tyr | |
| ENST00000393564.6:c.806G>A | ENSP00000377194.2:p.Cys269Tyr | |
| ENST00000439227.5:c.809G>A | ENSP00000395599.1:p.Cys270Tyr | |
| ENST00000440967.5:c.809G>A | ENSP00000400648.1:p.Cys270Tyr | |
| ENST00000489497.1:n.195G>A | ||
| ENST00000621232.4:c.806G>A | ENSP00000483686.1:p.Cys269Tyr | |
| NM_000402.4:c.896G>A | NP_000393.4:p.Cys299Tyr | |
| NM_001042351.2:c.806G>A | NP_001035810.1:p.Cys269Tyr | |
| XM_005274657.2:c.899G>A | XP_005274714.1:p.Cys300Tyr | |
| XM_005274658.2:c.809G>A | XP_005274715.1:p.Cys270Tyr | |
| XM_011531132.1:c.899G>A | XP_011529434.1:p.Cys300Tyr | |
| NM_001360016.2:c.806G>A MANE Select | NP_001346945.1:p.Cys269Tyr | |
| NM_001042351.3:c.806G>A | NP_001035810.1:p.Cys269Tyr |