Linked Data
ClinVar Variation Id:
567021
ClinVar RCV Id:
RCV000686985
dbSNP Id:
rs375318915
ExAC:
2:47300973 G / A
gnomAD v2:
2-47300973-G-A
gnomAD v3:
2-47073834-G-A
gnomAD v4:
2-47073834-G-A
COSMIC:
COSM1021224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073834G>A , CM000664.2:g.47073834G>A | GRCh38 |
| NC_000002.11:g.47300973G>A , CM000664.1:g.47300973G>A | GRCh37 |
| NC_000002.10:g.47154477G>A | NCBI36 |
| NG_034143.1:g.162706G>A | |
| NG_034143.2:g.162706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698500.1:n.4321G>A (TTC7A) | ||
| ENST00000698503.1:n.2494G>A (TTC7A) | ||
| ENST00000319190.11:c.2488G>A (TTC7A) MANE Select | ENSP00000316699.5:p.Glu830Lys | |
| ENST00000651101.1:n.1086G>A (TTC7A) | ||
| ENST00000651415.1:n.1279G>A (TTC7A) | ||
| ENST00000652236.1:n.1189G>A (TTC7A) | ||
| ENST00000652568.1:n.1161G>A (TTC7A) | ||
| ENST00000319190.9:c.2488G>A (TTC7A) | ENSP00000316699.5:p.Glu830Lys | |
| ENST00000394850.6:c.2560G>A (TTC7A) | ENSP00000378320.2:p.Glu854Lys | |
| ENST00000409245.5:c.2386G>A (TTC7A) | ENSP00000386307.1:p.Glu796Lys | |
| ENST00000409825.5:c.2436G>A (TTC7A) | ||
| ENST00000422269.1:c.787-7697C>T | ||
| ENST00000441914.5:c.2329G>A (TTC7A) | ||
| ENST00000464527.2:n.399-7697C>T (STPG4) | ||
| ENST00000482548.1:n.402-5278C>T (STPG4) | ||
| ENST00000484061.5:n.1595G>A (TTC7A) | ||
| ENST00000491786.5:n.1892G>A (TTC7A) | ||
| ENST00000496939.1:n.416-26915C>T (STPG4) | ||
| NM_001288951.1:c.2560G>A (TTC7A) | NP_001275880.1:p.Glu854Lys | |
| NM_001288953.1:c.2386G>A (TTC7A) | NP_001275882.1:p.Glu796Lys | |
| NM_001288955.1:c.1426G>A (TTC7A) | NP_001275884.1:p.Glu476Lys | |
| NM_020458.3:c.2488G>A (TTC7A) | NP_065191.2:p.Glu830Lys | |
| XM_005264439.2:c.2131G>A (TTC7A) | XP_005264496.1:p.Glu711Lys | |
| XM_011532998.1:c.2131G>A (TTC7A) | XP_011531300.1:p.Glu711Lys | |
| XM_011533000.1:c.1708G>A (TTC7A) | XP_011531302.1:p.Glu570Lys | |
| XM_011533001.1:c.1441G>A (TTC7A) | XP_011531303.1:p.Glu481Lys | |
| XM_005264439.4:c.2131G>A (TTC7A) | XP_005264496.1:p.Glu711Lys | |
| XM_011532998.3:c.2131G>A (TTC7A) | XP_011531300.1:p.Glu711Lys | |
| XM_011533000.3:c.1708G>A (TTC7A) | XP_011531302.1:p.Glu570Lys | |
| XM_011533001.3:c.1441G>A (TTC7A) | XP_011531303.1:p.Glu481Lys | |
| XM_017004524.1:c.2371G>A (TTC7A) | XP_016860013.1:p.Glu791Lys | |
| XM_017004525.1:c.2320G>A (TTC7A) | XP_016860014.1:p.Glu774Lys | |
| XM_017004526.1:c.2239G>A (TTC7A) | XP_016860015.1:p.Glu747Lys | |
| XM_024453013.1:c.1453G>A (TTC7A) | XP_024308781.1:p.Glu485Lys | |
| NM_020458.4:c.2488G>A (TTC7A) MANE Select | NP_065191.2:p.Glu830Lys | |
| NM_001288951.2:c.2560G>A (TTC7A) | NP_001275880.1:p.Glu854Lys | |
| NM_001288953.2:c.2386G>A (TTC7A) | NP_001275882.1:p.Glu796Lys | |
| NM_001288955.2:c.1426G>A (TTC7A) | NP_001275884.1:p.Glu476Lys |