Revel Score:
ENST00000295897 (MANE Select)
0.527
ENST00000415165
0.527
ENST00000329326
0.527
ENST00000503124
0.527
ENST00000509063
0.527
ENST00000401494
0.527
ENST00000430202
0.527
ENST00000511370
0.375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415141G>C , CM000666.2:g.73415141G>C | GRCh38 |
| NC_000004.11:g.74280858G>C , CM000666.1:g.74280858G>C | GRCh37 |
| NC_000004.10:g.74499722G>C | NCBI36 |
| NG_009291.1:g.15887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.1165G>C MANE Select | ENSP00000295897.4:p.Asp389His | |
| ENST00000295897.8:c.1165G>C | ENSP00000295897.4:p.Asp389His | |
| ENST00000401494.7:c.820G>C | ENSP00000384695.3:p.Asp274His | |
| ENST00000415165.6:c.589G>C | ENSP00000401820.2:p.Asp197His | |
| ENST00000476441.6:c.*444G>C | ENSP00000423727.1:n.*444G>C | |
| ENST00000484992.1:n.485G>C | ||
| ENST00000503124.5:c.715G>C | ENSP00000421027.1:p.Asp239His | |
| ENST00000504043.1:n.168G>C | ||
| ENST00000505649.5:n.851G>C | ||
| ENST00000509063.5:c.1165G>C | ENSP00000422784.1:p.Asp389His | |
| ENST00000511370.1:c.698G>C | ||
| ENST00000621085.4:c.526G>C | ENSP00000483421.1:p.Asp176His | |
| ENST00000621628.4:c.526G>C | ENSP00000480485.1:p.Asp176His | |
| NM_000477.5:c.1165G>C | NP_000468.1:p.Asp389His | |
| NM_000477.6:c.1165G>C | NP_000468.1:p.Asp389His | |
| NM_000477.7:c.1165G>C MANE Select | NP_000468.1:p.Asp389His |