Revel Score:
ENST00000343257 (MANE Select)
0.981
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339290C>A , CM000669.2:g.143339290C>A | GRCh38 |
| NC_000007.13:g.143036383C>A , CM000669.1:g.143036383C>A | GRCh37 |
| NC_000007.12:g.142746505C>A | NCBI36 |
| NG_009815.1:g.28165C>A | |
| NG_009815.2:g.28165C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1439C>A | ENSP00000498052.2:p.Pro480His | |
| ENST00000343257.7:c.1439C>A MANE Select | ENSP00000339867.2:p.Pro480His | |
| ENST00000432192.6:c.1263C>A | ||
| ENST00000343257.6:c.1439C>A | ENSP00000339867.2:p.Pro480His | |
| NM_000083.2:c.1439C>A | NP_000074.2:p.Pro480His | |
| NR_046453.1:n.1379C>A | ||
| XM_011515781.1:c.1463C>A | XP_011514083.1:p.Pro488His | |
| XM_011515782.1:c.185C>A | XP_011514084.1:p.Pro62His | |
| XM_011515782.2:c.185C>A | XP_011514084.1:p.Pro62His | |
| XM_017011739.1:c.1013C>A | XP_016867228.1:p.Pro338His | |
| XM_017011740.1:c.989C>A | XP_016867229.1:p.Pro330His | |
| NM_000083.3:c.1439C>A MANE Select | NP_000074.3:p.Pro480His | |
| NR_046453.2:n.1394C>A |