Linked Data
ClinVar Variation Id:
504740
ClinVar RCV Id:
RCV000615319
dbSNP Id:
rs369866808
ExAC:
10:81697853 C / T
gnomAD v2:
10-81697853-C-T
gnomAD v3:
10-79938097-C-T
gnomAD v4:
10-79938097-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79938097C>T , CM000672.2:g.79938097C>T | GRCh38 |
| NC_000010.10:g.81697853C>T , CM000672.1:g.81697853C>T | GRCh37 |
| NC_000010.9:g.81687833C>T | NCBI36 |
| NG_042218.1:g.16009G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372292.8:c.883G>A (SFTPD) MANE Select | ENSP00000361366.3:p.Ala295Thr | |
| ENST00000678361.1:n.3088G>A (SFTPD) | ||
| ENST00000679234.1:n.3009G>A (SFTPD) | ||
| ENST00000372292.7:c.883G>A (SFTPD) | ENSP00000361366.3:p.Ala295Thr | |
| ENST00000421889.1:n.234+1441C>T (MBL1P) | ||
| NM_003019.4:c.883G>A (SFTPD) | NP_003010.4:p.Ala295Thr | |
| XM_011540087.1:c.883G>A (SFTPD) | XP_011538389.1:p.Ala295Thr | |
| XM_011540088.1:c.766G>A (SFTPD) | XP_011538390.1:p.Ala256Thr | |
| XM_011540088.2:c.766G>A (SFTPD) | XP_011538390.1:p.Ala256Thr | |
| NM_003019.5:c.883G>A (SFTPD) MANE Select | NP_003010.4:p.Ala295Thr |