Linked Data
ClinVar Variation Id:
178808
ClinVar RCV Id:
RCV000155579
dbSNP Id:
rs1051246
ExAC:
10:81697818 A / G
gnomAD v2:
10-81697818-A-G
gnomAD v3:
10-79938062-A-G
gnomAD v4:
10-79938062-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79938062A>G , CM000672.2:g.79938062A>G | GRCh38 |
| NC_000010.10:g.81697818A>G , CM000672.1:g.81697818A>G | GRCh37 |
| NC_000010.9:g.81687798A>G | NCBI36 |
| NG_042218.1:g.16044T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372292.8:c.918T>C (SFTPD) MANE Select | ENSP00000361366.3:p.Ala306= | |
| ENST00000678361.1:n.3123T>C (SFTPD) | ||
| ENST00000679234.1:n.3044T>C (SFTPD) | ||
| ENST00000372292.7:c.918T>C (SFTPD) | ENSP00000361366.3:p.Ala306= | |
| ENST00000421889.1:n.234+1406A>G (MBL1P) | ||
| NM_003019.4:c.918T>C (SFTPD) | NP_003010.4:p.Ala306= | |
| XM_011540087.1:c.918T>C (SFTPD) | XP_011538389.1:p.Ala306= | |
| XM_011540088.1:c.801T>C (SFTPD) | XP_011538390.1:p.Ala267= | |
| XM_011540088.2:c.801T>C (SFTPD) | XP_011538390.1:p.Ala267= | |
| NM_003019.5:c.918T>C (SFTPD) MANE Select | NP_003010.4:p.Ala306= |