Linked Data
ClinVar Variation Id:
528468
ClinVar RCV Id:
RCV000633673
dbSNP Id:
rs1274237789
gnomAD v2:
2-47168692-G-A
gnomAD v3:
2-46941553-G-A
gnomAD v4:
2-46941553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46941553G>A , CM000664.2:g.46941553G>A | GRCh38 |
| NC_000002.11:g.47168692G>A , CM000664.1:g.47168692G>A | GRCh37 |
| NC_000002.10:g.47022196G>A | NCBI36 |
| NG_016428.2:g.5303C>T , LRG_566:g.5303C>T | |
| NG_034143.1:g.30425G>A | |
| NG_034143.2:g.30425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.804-8810G>A (TTC7A) | ||
| ENST00000698501.1:n.506-8810G>A (TTC7A) | ||
| ENST00000698502.1:n.166-8810G>A (TTC7A) | ||
| ENST00000319190.11:c.12G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Lys4= | |
| ENST00000319190.9:c.12G>A (TTC7A) | ENSP00000316699.5:p.Lys4= | |
| ENST00000394850.6:c.12G>A (TTC7A) | ENSP00000378320.2:p.Lys4= | |
| ENST00000409147.1:c.-8+19C>T (MCFD2) | ENSP00000387082.1:n.-8+19C>T | |
| ENST00000409207.5:c.-7+19C>T (MCFD2) | ENSP00000386386.1:n.-7+19C>T | |
| ENST00000409245.5:c.83-8810G>A (TTC7A) | ENSP00000386307.1:n.83-8810G>A | |
| ENST00000441914.5:c.11G>A (TTC7A) | ||
| ENST00000444761.6:c.92+19C>T (MCFD2) | ENSP00000394647.2:n.92+19C>T | |
| ENST00000461601.5:n.279G>A (TTC7A) | ||
| ENST00000470873.1:n.202+19C>T (MCFD2) | ||
| ENST00000479225.1:n.143+19C>T (MCFD2) | ||
| ENST00000487121.1:n.156+19C>T (MCFD2) | ||
| NM_001171508.2:c.-7+19C>T , LRG_566t3:c.-7+19C>T (MCFD2) | NP_001164979.1:n.-7+19C>T | |
| NM_001171511.2:c.92+19C>T (MCFD2) | NP_001164982.1:n.92+19C>T | |
| NM_001288951.1:c.12G>A (TTC7A) | NP_001275880.1:p.Lys4= | |
| NM_001288953.1:c.83-8810G>A (TTC7A) | NP_001275882.1:n.83-8810G>A | |
| NM_001288955.1:c.-893G>A (TTC7A) | NP_001275884.1:n.-893G>A | |
| NM_020458.3:c.12G>A (TTC7A) | NP_065191.2:p.Lys4= | |
| XM_011532999.1:c.12G>A (TTC7A) | XP_011531301.1:p.Lys4= | |
| XR_939696.1:n.317G>A (TTC7A) | ||
| XM_005264439.4:c.-231-8810G>A (TTC7A) | XP_005264496.1:n.-231-8810G>A | |
| XM_011532998.3:c.-296-8810G>A (TTC7A) | XP_011531300.1:n.-296-8810G>A | |
| XM_011532999.2:c.12G>A (TTC7A) | XP_011531301.1:p.Lys4= | |
| XM_017004524.1:c.12G>A (TTC7A) | XP_016860013.1:p.Lys4= | |
| XM_017004526.1:c.12G>A (TTC7A) | XP_016860015.1:p.Lys4= | |
| XM_017004529.1:c.12G>A (TTC7A) | XP_016860018.1:p.Lys4= | |
| XR_001738853.2:n.324G>A (TTC7A) | ||
| XR_001738854.1:n.323G>A (TTC7A) | ||
| NM_020458.4:c.12G>A (TTC7A) MANE Select | NP_065191.2:p.Lys4= | |
| NM_001288951.2:c.12G>A (TTC7A) | NP_001275880.1:p.Lys4= | |
| NM_001288953.2:c.83-8810G>A (TTC7A) | NP_001275882.1:n.83-8810G>A | |
| NM_001288955.2:c.-893G>A (TTC7A) | NP_001275884.1:n.-893G>A | |
| NM_001171511.3:c.92+19C>T (MCFD2) | NP_001164982.1:n.92+19C>T |