Linked Data
ClinVar Variation Id:
1025381
ClinVar RCV Id:
RCV001325687
dbSNP Id:
rs1041638738
gnomAD v2:
2-47168709-A-T
gnomAD v4:
2-46941570-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46941570A>T , CM000664.2:g.46941570A>T | GRCh38 |
| NC_000002.11:g.47168709A>T , CM000664.1:g.47168709A>T | GRCh37 |
| NC_000002.10:g.47022213A>T | NCBI36 |
| NG_016428.2:g.5286T>A , LRG_566:g.5286T>A | |
| NG_034143.1:g.30442A>T | |
| NG_034143.2:g.30442A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.804-8793A>T (TTC7A) | ||
| ENST00000698501.1:n.506-8793A>T (TTC7A) | ||
| ENST00000698502.1:n.166-8793A>T (TTC7A) | ||
| ENST00000319190.11:c.29A>T (TTC7A) MANE Select | ENSP00000316699.5:p.Tyr10Phe | |
| ENST00000319190.9:c.29A>T (TTC7A) | ENSP00000316699.5:p.Tyr10Phe | |
| ENST00000394850.6:c.29A>T (TTC7A) | ENSP00000378320.2:p.Tyr10Phe | |
| ENST00000409147.1:c.-8+2T>A (MCFD2) | ENSP00000387082.1:n.-8+2T>A | |
| ENST00000409207.5:c.-7+2T>A (MCFD2) | ENSP00000386386.1:n.-7+2T>A | |
| ENST00000409245.5:c.83-8793A>T (TTC7A) | ENSP00000386307.1:n.83-8793A>T | |
| ENST00000441914.5:c.28A>T (TTC7A) | ||
| ENST00000444761.6:c.92+2T>A (MCFD2) | ENSP00000394647.2:n.92+2T>A | |
| ENST00000461601.5:n.296A>T (TTC7A) | ||
| ENST00000470873.1:n.202+2T>A (MCFD2) | ||
| ENST00000479225.1:n.143+2T>A (MCFD2) | ||
| ENST00000487121.1:n.156+2T>A (MCFD2) | ||
| NM_001171508.2:c.-7+2T>A , LRG_566t3:c.-7+2T>A (MCFD2) | NP_001164979.1:n.-7+2T>A | |
| NM_001171511.2:c.92+2T>A (MCFD2) | NP_001164982.1:n.92+2T>A | |
| NM_001288951.1:c.29A>T (TTC7A) | NP_001275880.1:p.Tyr10Phe | |
| NM_001288953.1:c.83-8793A>T (TTC7A) | NP_001275882.1:n.83-8793A>T | |
| NM_001288955.1:c.-876A>T (TTC7A) | NP_001275884.1:n.-876A>T | |
| NM_020458.3:c.29A>T (TTC7A) | NP_065191.2:p.Tyr10Phe | |
| XM_011532999.1:c.29A>T (TTC7A) | XP_011531301.1:p.Tyr10Phe | |
| XR_939696.1:n.334A>T (TTC7A) | ||
| XM_005264439.4:c.-231-8793A>T (TTC7A) | XP_005264496.1:n.-231-8793A>T | |
| XM_011532998.3:c.-296-8793A>T (TTC7A) | XP_011531300.1:n.-296-8793A>T | |
| XM_011532999.2:c.29A>T (TTC7A) | XP_011531301.1:p.Tyr10Phe | |
| XM_017004524.1:c.29A>T (TTC7A) | XP_016860013.1:p.Tyr10Phe | |
| XM_017004526.1:c.29A>T (TTC7A) | XP_016860015.1:p.Tyr10Phe | |
| XM_017004529.1:c.29A>T (TTC7A) | XP_016860018.1:p.Tyr10Phe | |
| XR_001738853.2:n.341A>T (TTC7A) | ||
| XR_001738854.1:n.340A>T (TTC7A) | ||
| NM_020458.4:c.29A>T (TTC7A) MANE Select | NP_065191.2:p.Tyr10Phe | |
| NM_001288951.2:c.29A>T (TTC7A) | NP_001275880.1:p.Tyr10Phe | |
| NM_001288953.2:c.83-8793A>T (TTC7A) | NP_001275882.1:n.83-8793A>T | |
| NM_001288955.2:c.-876A>T (TTC7A) | NP_001275884.1:n.-876A>T | |
| NM_001171511.3:c.92+2T>A (MCFD2) | NP_001164982.1:n.92+2T>A |