Revel Score:
ENST00000372292 (MANE Select)
0.357
ENST00000444384
0.357
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79941966T>G , CM000672.2:g.79941966T>G | GRCh38 |
| NC_000010.10:g.81701722T>G , CM000672.1:g.81701722T>G | GRCh37 |
| NC_000010.9:g.81691702T>G | NCBI36 |
| NG_042218.1:g.12140A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372292.8:c.538A>C (SFTPD) MANE Select | ENSP00000361366.3:p.Thr180Pro | |
| ENST00000678361.1:n.2743A>C (SFTPD) | ||
| ENST00000679234.1:n.2664A>C (SFTPD) | ||
| ENST00000372292.7:c.538A>C (SFTPD) | ENSP00000361366.3:p.Thr180Pro | |
| ENST00000421889.1:n.333+431T>G (MBL1P) | ||
| ENST00000444384.3:c.577A>C (SFTPD) | ENSP00000394325.1:p.Thr193Pro | |
| NM_003019.4:c.538A>C (SFTPD) | NP_003010.4:p.Thr180Pro | |
| XM_011540087.1:c.538A>C (SFTPD) | XP_011538389.1:p.Thr180Pro | |
| XM_011540088.1:c.421A>C (SFTPD) | XP_011538390.1:p.Thr141Pro | |
| XM_011540088.2:c.421A>C (SFTPD) | XP_011538390.1:p.Thr141Pro | |
| NM_003019.5:c.538A>C (SFTPD) MANE Select | NP_003010.4:p.Thr180Pro |