Linked Data
ClinVar Variation Id:
2175587
ClinVar RCV Id:
RCV002579341
dbSNP Id:
rs187296783
ExAC:
17:73748559 G / A
gnomAD v2:
17-73748559-G-A
gnomAD v4:
17-75752478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75752478G>A , CM000679.2:g.75752478G>A | GRCh38 |
| NC_000017.10:g.73748559G>A , CM000679.1:g.73748559G>A | GRCh37 |
| NC_000017.9:g.71260154G>A | NCBI36 |
| NG_007372.1:g.36044G>A | |
| NG_008079.2:g.17722C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.4009G>A (ITGB4) | ENSP00000400217.2:p.Ala1337Thr | |
| ENST00000200181.8:c.4009G>A (ITGB4) MANE Select | ENSP00000200181.3:p.Ala1337Thr | |
| ENST00000200181.7:c.4009G>A (ITGB4) | ENSP00000200181.3:p.Ala1337Thr | |
| ENST00000225614.6:c.*23-741C>T (GALK1) | ENSP00000225614.1:n.*23-741C>T | |
| ENST00000449880.6:c.4009G>A (ITGB4) | ENSP00000400217.2:p.Ala1337Thr | |
| ENST00000450894.7:c.4009G>A (ITGB4) | ENSP00000405536.3:p.Ala1337Thr | |
| ENST00000579662.5:c.4009G>A (ITGB4) | ENSP00000463651.1:p.Ala1337Thr | |
| ENST00000582629.1:c.266-5148G>A (ITGB4) | ENSP00000463788.1:n.266-5148G>A | |
| ENST00000583327.2:n.252G>A (ITGB4) | ||
| ENST00000589643.1:n.255-741C>T (GALK1) | ||
| NM_000213.3:c.4009G>A (ITGB4) | NP_000204.3:p.Ala1337Thr | |
| NM_001005619.1:c.4009G>A (ITGB4) | NP_001005619.1:p.Ala1337Thr | |
| NM_001005731.1:c.4009G>A (ITGB4) | NP_001005731.1:p.Ala1337Thr | |
| XM_005257309.2:c.4009G>A (ITGB4) | XP_005257366.1:p.Ala1337Thr | |
| XM_005257311.3:c.4009G>A (ITGB4) | XP_005257368.1:p.Ala1337Thr | |
| XM_005257312.2:c.4009G>A (ITGB4) | XP_005257369.1:p.Ala1337Thr | |
| XM_006721866.2:c.4114G>A (ITGB4) | XP_006721929.1:p.Ala1372Thr | |
| XM_006721867.2:c.4114G>A (ITGB4) | XP_006721930.1:p.Ala1372Thr | |
| XM_006721868.2:c.4114G>A (ITGB4) | XP_006721931.1:p.Ala1372Thr | |
| XM_006721870.2:c.4114G>A (ITGB4) | XP_006721933.1:p.Ala1372Thr | |
| XM_011524751.1:c.4114G>A (ITGB4) | XP_011523053.1:p.Ala1372Thr | |
| XM_011524752.1:c.1954G>A (ITGB4) | XP_011523054.1:p.Ala652Thr | |
| NM_000213.4:c.4009G>A (ITGB4) | NP_000204.3:p.Ala1337Thr | |
| NM_001005731.2:c.4009G>A (ITGB4) | NP_001005731.1:p.Ala1337Thr | |
| NM_001321123.1:c.4009G>A (ITGB4) | NP_001308052.1:p.Ala1337Thr | |
| XM_005257311.4:c.4009G>A (ITGB4) | XP_005257368.1:p.Ala1337Thr | |
| XM_006721866.3:c.4114G>A (ITGB4) | XP_006721929.1:p.Ala1372Thr | |
| XM_006721867.3:c.4114G>A (ITGB4) | XP_006721930.1:p.Ala1372Thr | |
| XM_006721868.3:c.4114G>A (ITGB4) | XP_006721931.1:p.Ala1372Thr | |
| XM_006721870.3:c.4114G>A (ITGB4) | XP_006721933.1:p.Ala1372Thr | |
| XM_011524751.2:c.4114G>A (ITGB4) | XP_011523053.1:p.Ala1372Thr | |
| XM_011524752.2:c.1954G>A (ITGB4) | XP_011523054.1:p.Ala652Thr | |
| NM_000213.5:c.4009G>A (ITGB4) MANE Select | NP_000204.3:p.Ala1337Thr | |
| NM_001005731.3:c.4009G>A (ITGB4) | NP_001005731.1:p.Ala1337Thr | |
| NM_001321123.2:c.4009G>A (ITGB4) | NP_001308052.1:p.Ala1337Thr | |
| NM_001381985.1:c.*23-741C>T (GALK1) | NP_001368914.1:n.*23-741C>T |