Revel Score:
ENST00000377270
0.698
ENST00000396364
0.698
ENST00000396366
0.698
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69035784T>C , CM000671.2:g.69035784T>C | GRCh38 |
| NC_000009.11:g.71650700T>C , CM000671.1:g.71650700T>C | GRCh37 |
| NC_000009.10:g.70840520T>C | NCBI36 |
| NG_008845.2:g.5222T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484259.3:c.2T>C MANE Select | ENSP00000419243.2:p.Met1Thr | |
| ENST00000642330.1:c.2T>C | ENSP00000493770.1:p.Met1Thr | |
| ENST00000642889.1:c.2T>C | ENSP00000493780.1:p.Met1Thr | |
| ENST00000643352.1:c.2T>C | ENSP00000496488.1:p.Met1Thr | |
| ENST00000644653.1:c.2T>C | ENSP00000495217.1:p.Met1Thr | |
| ENST00000644977.1:c.2T>C | ENSP00000495651.1:p.Met1Thr | |
| ENST00000645088.1:c.2T>C | ENSP00000495447.1:p.Met1Thr | |
| ENST00000646862.1:c.2T>C | ENSP00000494599.1:p.Met1Thr | |
| ENST00000377270.7:c.2T>C | ENSP00000366482.3:p.Met1Thr | |
| ENST00000396364.7:c.2T>C | ENSP00000379650.3:p.Met1Thr | |
| ENST00000396366.6:c.2T>C | ENSP00000379652.2:p.Met1Thr | |
| NM_000144.4:c.2T>C | NP_000135.2:p.Met1Thr | |
| NM_001161706.1:c.2T>C | NP_001155178.1:p.Met1Thr | |
| NM_181425.2:c.2T>C | NP_852090.1:p.Met1Thr | |
| NM_000144.5:c.2T>C MANE Select | NP_000135.2:p.Met1Thr | |
| NM_181425.3:c.2T>C | NP_852090.1:p.Met1Thr |