Revel Score:
ENST00000399220 (MANE Select)
0.475
ENST00000538756
0.475
ENST00000358309
0.475
ENST00000541347
0.475
ENST00000542107
0.475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265767T>G , CM000665.2:g.39265767T>G | GRCh38 |
| NC_000003.11:g.39307258T>G , CM000665.1:g.39307258T>G | GRCh37 |
| NC_000003.10:g.39282262T>G | NCBI36 |
| NG_016362.1:g.20969A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.743A>C MANE Select | ENSP00000382166.3:p.Asn248Thr | |
| ENST00000358309.3:c.839A>C | ENSP00000351059.3:p.Asn280Thr | |
| ENST00000399220.2:c.743A>C | ENSP00000382166.2:p.Asn248Thr | |
| ENST00000541347.5:c.743A>C | ENSP00000439140.1:p.Asn248Thr | |
| ENST00000542107.5:c.743A>C | ENSP00000444928.1:p.Asn248Thr | |
| NM_001171171.1:c.743A>C | NP_001164642.1:p.Asn248Thr | |
| NM_001171172.1:c.743A>C | NP_001164643.1:p.Asn248Thr | |
| NM_001171174.1:c.839A>C | NP_001164645.1:p.Asn280Thr | |
| NM_001337.3:c.743A>C | NP_001328.1:p.Asn248Thr | |
| NM_001337.4:c.743A>C MANE Select | NP_001328.1:p.Asn248Thr | |
| NM_001171171.2:c.743A>C | NP_001164642.1:p.Asn248Thr | |
| NM_001171172.2:c.743A>C | NP_001164643.1:p.Asn248Thr |