Revel Score:
ENST00000307078 (MANE Select)
0.066
ENST00000544103
0.066
ENST00000375702
0.066
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65558473G>C , CM000679.2:g.65558473G>C | GRCh38 |
| NC_000017.10:g.63554591G>C , CM000679.1:g.63554591G>C | GRCh37 |
| NC_000017.9:g.60985053G>C | NCBI36 |
| NG_012142.1:g.8150C>G , LRG_296:g.8150C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.148C>G MANE Select | ENSP00000302625.5:p.Pro50Ala | |
| ENST00000307078.9:c.148C>G | ENSP00000302625.5:p.Pro50Ala | |
| ENST00000375702.5:c.148C>G | ENSP00000364854.5:p.Pro50Ala | |
| ENST00000544103.2:c.148C>G | ENSP00000441151.2:p.Pro50Ala | |
| ENST00000577278.1:c.148C>G | ENSP00000464264.1:p.Pro50Ala | |
| ENST00000577662.1:c.463C>G | ||
| ENST00000580513.1:c.148C>G | ENSP00000463761.1:p.Pro50Ala | |
| ENST00000585045.1:c.148C>G | ENSP00000463192.1:p.Pro50Ala | |
| ENST00000611991.1:c.148C>G | ENSP00000481191.1:p.Pro50Ala | |
| ENST00000618960.4:c.148C>G | ENSP00000478916.1:p.Pro50Ala | |
| NM_004655.3:c.148C>G , LRG_296t1:c.148C>G | NP_004646.3:p.Pro50Ala | |
| XM_011525319.1:c.148C>G | XP_011523621.1:p.Pro50Ala | |
| XM_011525320.1:c.148C>G | XP_011523622.1:p.Pro50Ala | |
| XM_011525321.1:c.148C>G | XP_011523623.1:p.Pro50Ala | |
| XM_011525322.1:c.148C>G | XP_011523624.1:p.Pro50Ala | |
| NM_001363813.1:c.148C>G | NP_001350742.1:p.Pro50Ala | |
| NM_004655.4:c.148C>G MANE Select | NP_004646.3:p.Pro50Ala | |
| XM_011525319.2:c.148C>G | XP_011523621.1:p.Pro50Ala | |
| XM_011525321.2:c.148C>G | XP_011523623.1:p.Pro50Ala | |
| XM_017025192.1:c.148C>G | XP_016880681.1:p.Pro50Ala | |
| XM_017025193.1:c.148C>G | XP_016880682.1:p.Pro50Ala |