Revel Score:
ENST00000457016
0.046
ENST00000257430 (MANE Select)
0.046
ENST00000508376
0.046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842394C>T , CM000667.2:g.112842394C>T | GRCh38 |
| NC_000005.9:g.112178091C>T , CM000667.1:g.112178091C>T | GRCh37 |
| NC_000005.8:g.112205990C>T | NCBI36 |
| NG_008481.4:g.154874C>T , LRG_130:g.154874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6854C>T | ENSP00000473355.2:p.Ala2285Val | |
| ENST00000505350.2:c.*6806C>T | ENSP00000481752.1:n.*6806C>T | |
| ENST00000507379.6:c.6746C>T | ENSP00000423224.2:p.Ala2249Val | |
| ENST00000509732.6:c.6800C>T | ENSP00000426541.2:p.Ala2267Val | |
| ENST00000512211.7:c.6800C>T | ENSP00000423828.3:p.Ala2267Val | |
| ENST00000257430.9:c.6800C>T MANE Select | ENSP00000257430.4:p.Ala2267Val | |
| ENST00000257430.8:c.6800C>T | ENSP00000257430.4:p.Ala2267Val | |
| ENST00000508376.6:c.6800C>T | ENSP00000427089.2:p.Ala2267Val | |
| ENST00000508624.5:c.*6122C>T | ENSP00000424265.1:n.*6122C>T | |
| ENST00000520401.1:c.230+13422C>T | ||
| NM_000038.5:c.6800C>T | NP_000029.2:p.Ala2267Val | |
| NM_001127510.2:c.6800C>T | NP_001120982.1:p.Ala2267Val | |
| NM_001127511.2:c.6746C>T | NP_001120983.2:p.Ala2249Val | |
| NM_001354895.1:c.6800C>T | NP_001341824.1:p.Ala2267Val | |
| NM_001354896.1:c.6854C>T | NP_001341825.1:p.Ala2285Val | |
| NM_001354897.1:c.6830C>T | NP_001341826.1:p.Ala2277Val | |
| NM_001354898.1:c.6725C>T | NP_001341827.1:p.Ala2242Val | |
| NM_001354899.1:c.6716C>T | NP_001341828.1:p.Ala2239Val | |
| NM_001354900.1:c.6677C>T | NP_001341829.1:p.Ala2226Val | |
| NM_001354901.1:c.6623C>T | NP_001341830.1:p.Ala2208Val | |
| NM_001354902.1:c.6527C>T | NP_001341831.1:p.Ala2176Val | |
| NM_001354903.1:c.6497C>T | NP_001341832.1:p.Ala2166Val | |
| NM_001354904.1:c.6422C>T | NP_001341833.1:p.Ala2141Val | |
| NM_001354905.1:c.6320C>T | NP_001341834.1:p.Ala2107Val | |
| NM_001354906.1:c.5951C>T | NP_001341835.1:p.Ala1984Val | |
| NM_000038.6:c.6800C>T MANE Select | NP_000029.2:p.Ala2267Val | |
| NM_001127510.3:c.6800C>T | NP_001120982.1:p.Ala2267Val | |
| NM_001127511.3:c.6746C>T | NP_001120983.2:p.Ala2249Val | |
| NM_001354895.2:c.6800C>T | NP_001341824.1:p.Ala2267Val | |
| NM_001354896.2:c.6854C>T | NP_001341825.1:p.Ala2285Val | |
| NM_001354897.2:c.6830C>T | NP_001341826.1:p.Ala2277Val | |
| NM_001354898.2:c.6725C>T | NP_001341827.1:p.Ala2242Val | |
| NM_001354899.2:c.6716C>T | NP_001341828.1:p.Ala2239Val | |
| NM_001354900.2:c.6677C>T | NP_001341829.1:p.Ala2226Val | |
| NM_001354901.2:c.6623C>T | NP_001341830.1:p.Ala2208Val | |
| NM_001354902.2:c.6527C>T | NP_001341831.1:p.Ala2176Val | |
| NM_001354903.2:c.6497C>T | NP_001341832.1:p.Ala2166Val | |
| NM_001354904.2:c.6422C>T | NP_001341833.1:p.Ala2141Val | |
| NM_001354905.2:c.6320C>T | NP_001341834.1:p.Ala2107Val | |
| NM_001354906.2:c.5951C>T | NP_001341835.1:p.Ala1984Val |