Revel Score:
ENST00000272895 (MANE Select)
0.948
ENST00000389661
0.948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214980610T>C , CM000664.2:g.214980610T>C | GRCh38 |
| NC_000002.11:g.215845334T>C , CM000664.1:g.215845334T>C | GRCh37 |
| NC_000002.10:g.215553579T>C | NCBI36 |
| NG_007074.1:g.162818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4613A>G MANE Select | ENSP00000272895.7:p.Asp1538Gly | |
| ENST00000272895.11:c.4613A>G | ENSP00000272895.7:p.Asp1538Gly | |
| ENST00000389661.4:c.3659A>G | ENSP00000374312.4:p.Asp1220Gly | |
| NM_015657.3:c.3659A>G | NP_056472.2:p.Asp1220Gly | |
| NM_173076.2:c.4613A>G | NP_775099.2:p.Asp1538Gly | |
| NR_103740.1:n.4913A>G | ||
| XM_011510951.1:c.4622A>G | XP_011509253.1:p.Asp1541Gly | |
| XM_011510952.1:c.4622A>G | XP_011509254.1:p.Asp1541Gly | |
| XM_011510951.2:c.4622A>G | XP_011509253.1:p.Asp1541Gly | |
| NM_173076.3:c.4613A>G MANE Select | NP_775099.2:p.Asp1538Gly | |
| NR_103740.2:n.5111A>G | ||
| NM_015657.4:c.3659A>G | NP_056472.2:p.Asp1220Gly |