Linked Data
ClinVar Variation Id:
14742
dbSNP Id:
rs121912467
ExAC:
17:73748302 C / T
gnomAD v2:
17-73748302-C-T
gnomAD v4:
17-75752221-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75752221C>T , CM000679.2:g.75752221C>T | GRCh38 |
| NC_000017.10:g.73748302C>T , CM000679.1:g.73748302C>T | GRCh37 |
| NC_000017.9:g.71259897C>T | NCBI36 |
| NG_007372.1:g.35787C>T | |
| NG_008079.2:g.17979G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449880.7:c.3841C>T (ITGB4) | ENSP00000400217.2:p.Arg1281Trp | |
| ENST00000200181.8:c.3841C>T (ITGB4) MANE Select | ENSP00000200181.3:p.Arg1281Trp | |
| ENST00000200181.7:c.3841C>T (ITGB4) | ENSP00000200181.3:p.Arg1281Trp | |
| ENST00000225614.6:c.*23-484G>A (GALK1) | ENSP00000225614.1:n.*23-484G>A | |
| ENST00000449880.6:c.3841C>T (ITGB4) | ENSP00000400217.2:p.Arg1281Trp | |
| ENST00000450894.7:c.3841C>T (ITGB4) | ENSP00000405536.3:p.Arg1281Trp | |
| ENST00000579662.5:c.3841C>T (ITGB4) | ENSP00000463651.1:p.Arg1281Trp | |
| ENST00000582629.1:c.266-5405C>T (ITGB4) | ENSP00000463788.1:n.266-5405C>T | |
| ENST00000583327.2:n.84C>T (ITGB4) | ||
| ENST00000589643.1:n.255-484G>A (GALK1) | ||
| NM_000213.3:c.3841C>T (ITGB4) | NP_000204.3:p.Arg1281Trp | |
| NM_001005619.1:c.3841C>T (ITGB4) | NP_001005619.1:p.Arg1281Trp | |
| NM_001005731.1:c.3841C>T (ITGB4) | NP_001005731.1:p.Arg1281Trp | |
| XM_005257309.2:c.3841C>T (ITGB4) | XP_005257366.1:p.Arg1281Trp | |
| XM_005257311.3:c.3841C>T (ITGB4) | XP_005257368.1:p.Arg1281Trp | |
| XM_005257312.2:c.3841C>T (ITGB4) | XP_005257369.1:p.Arg1281Trp | |
| XM_006721866.2:c.3946C>T (ITGB4) | XP_006721929.1:p.Arg1316Trp | |
| XM_006721867.2:c.3946C>T (ITGB4) | XP_006721930.1:p.Arg1316Trp | |
| XM_006721868.2:c.3946C>T (ITGB4) | XP_006721931.1:p.Arg1316Trp | |
| XM_006721870.2:c.3946C>T (ITGB4) | XP_006721933.1:p.Arg1316Trp | |
| XM_011524751.1:c.3946C>T (ITGB4) | XP_011523053.1:p.Arg1316Trp | |
| XM_011524752.1:c.1786C>T (ITGB4) | XP_011523054.1:p.Arg596Trp | |
| NM_000213.4:c.3841C>T (ITGB4) | NP_000204.3:p.Arg1281Trp | |
| NM_001005731.2:c.3841C>T (ITGB4) | NP_001005731.1:p.Arg1281Trp | |
| NM_001321123.1:c.3841C>T (ITGB4) | NP_001308052.1:p.Arg1281Trp | |
| XM_005257311.4:c.3841C>T (ITGB4) | XP_005257368.1:p.Arg1281Trp | |
| XM_006721866.3:c.3946C>T (ITGB4) | XP_006721929.1:p.Arg1316Trp | |
| XM_006721867.3:c.3946C>T (ITGB4) | XP_006721930.1:p.Arg1316Trp | |
| XM_006721868.3:c.3946C>T (ITGB4) | XP_006721931.1:p.Arg1316Trp | |
| XM_006721870.3:c.3946C>T (ITGB4) | XP_006721933.1:p.Arg1316Trp | |
| XM_011524751.2:c.3946C>T (ITGB4) | XP_011523053.1:p.Arg1316Trp | |
| XM_011524752.2:c.1786C>T (ITGB4) | XP_011523054.1:p.Arg596Trp | |
| NM_000213.5:c.3841C>T (ITGB4) MANE Select | NP_000204.3:p.Arg1281Trp | |
| NM_001005731.3:c.3841C>T (ITGB4) | NP_001005731.1:p.Arg1281Trp | |
| NM_001321123.2:c.3841C>T (ITGB4) | NP_001308052.1:p.Arg1281Trp | |
| NM_001381985.1:c.*23-484G>A (GALK1) | NP_001368914.1:n.*23-484G>A |