Revel Score:
ENST00000288532 (MANE Select)
0.064
ENST00000552443
0.064
ENST00000547943
0.064
ENST00000551769
0.064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120516680T>G , CM000674.2:g.120516680T>G | GRCh38 |
| NC_000012.11:g.120954483T>G , CM000674.1:g.120954483T>G | GRCh37 |
| NC_000012.10:g.119438866T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288532.11:c.461A>C MANE Select | ENSP00000288532.6:p.Glu154Ala | |
| ENST00000288532.10:c.461A>C | ENSP00000288532.6:p.Glu154Ala | |
| ENST00000445328.6:c.352+5534A>C | ENSP00000401798.2:n.352+5534A>C | |
| ENST00000546838.1:n.5A>C | ||
| ENST00000547943.5:c.311A>C | ENSP00000449874.1:p.Glu104Ala | |
| ENST00000551769.1:c.218A>C | ENSP00000450001.1:p.Glu73Ala | |
| ENST00000552443.5:c.218A>C | ENSP00000449863.1:p.Glu73Ala | |
| NM_032314.3:c.461A>C | NP_115690.3:p.Glu154Ala | |
| XM_006719639.1:c.218A>C | XP_006719702.1:p.Glu73Ala | |
| XM_006719639.2:c.218A>C | XP_006719702.1:p.Glu73Ala | |
| XM_024449224.1:c.218A>C | XP_024304992.1:p.Glu73Ala | |
| NM_032314.4:c.461A>C MANE Select | NP_115690.3:p.Glu154Ala |