Revel Score:
ENST00000284601 (MANE Select)
0.029
ENST00000449795
0.029
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113879741C>G , CM000669.2:g.113879741C>G | GRCh38 |
| NC_000007.13:g.113519796C>G , CM000669.1:g.113519796C>G | GRCh37 |
| NC_000007.12:g.113307032C>G | NCBI36 |
| NG_012116.1:g.44287G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.1351G>C MANE Select | ENSP00000284601.3:p.Val451Leu | |
| ENST00000284601.3:c.1351G>C | ENSP00000284601.3:p.Val451Leu | |
| ENST00000449795.5:c.388G>C | ENSP00000401278.1:p.Val130Leu | |
| NM_002711.3:c.1351G>C | NP_002702.2:p.Val451Leu | |
| XM_005250473.2:c.748G>C | XP_005250530.1:p.Val250Leu | |
| XM_005250473.3:c.748G>C | XP_005250530.1:p.Val250Leu | |
| NM_002711.4:c.1351G>C MANE Select | NP_002702.2:p.Val451Leu |