Linked Data
ClinVar Variation Id:
931093
ClinVar RCV Id:
RCV001197321
dbSNP Id:
rs2061391218
gnomAD v4:
17-75752483-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75752483G>C , CM000679.2:g.75752483G>C | GRCh38 |
| NC_000017.10:g.73748564G>C , CM000679.1:g.73748564G>C | GRCh37 |
| NC_000017.9:g.71260159G>C | NCBI36 |
| NG_007372.1:g.36049G>C | |
| NG_008079.2:g.17717C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.4014G>C (ITGB4) | ENSP00000400217.2:p.Gln1338His | |
| ENST00000200181.8:c.4014G>C (ITGB4) MANE Select | ENSP00000200181.3:p.Gln1338His | |
| ENST00000200181.7:c.4014G>C (ITGB4) | ENSP00000200181.3:p.Gln1338His | |
| ENST00000225614.6:c.*23-746C>G (GALK1) | ENSP00000225614.1:n.*23-746C>G | |
| ENST00000449880.6:c.4014G>C (ITGB4) | ENSP00000400217.2:p.Gln1338His | |
| ENST00000450894.7:c.4014G>C (ITGB4) | ENSP00000405536.3:p.Gln1338His | |
| ENST00000579662.5:c.4014G>C (ITGB4) | ENSP00000463651.1:p.Gln1338His | |
| ENST00000582629.1:c.266-5143G>C (ITGB4) | ENSP00000463788.1:n.266-5143G>C | |
| ENST00000583327.2:n.257G>C (ITGB4) | ||
| ENST00000589643.1:n.255-746C>G (GALK1) | ||
| NM_000213.3:c.4014G>C (ITGB4) | NP_000204.3:p.Gln1338His | |
| NM_001005619.1:c.4014G>C (ITGB4) | NP_001005619.1:p.Gln1338His | |
| NM_001005731.1:c.4014G>C (ITGB4) | NP_001005731.1:p.Gln1338His | |
| XM_005257309.2:c.4014G>C (ITGB4) | XP_005257366.1:p.Gln1338His | |
| XM_005257311.3:c.4014G>C (ITGB4) | XP_005257368.1:p.Gln1338His | |
| XM_005257312.2:c.4014G>C (ITGB4) | XP_005257369.1:p.Gln1338His | |
| XM_006721866.2:c.4119G>C (ITGB4) | XP_006721929.1:p.Gln1373His | |
| XM_006721867.2:c.4119G>C (ITGB4) | XP_006721930.1:p.Gln1373His | |
| XM_006721868.2:c.4119G>C (ITGB4) | XP_006721931.1:p.Gln1373His | |
| XM_006721870.2:c.4119G>C (ITGB4) | XP_006721933.1:p.Gln1373His | |
| XM_011524751.1:c.4119G>C (ITGB4) | XP_011523053.1:p.Gln1373His | |
| XM_011524752.1:c.1959G>C (ITGB4) | XP_011523054.1:p.Gln653His | |
| NM_000213.4:c.4014G>C (ITGB4) | NP_000204.3:p.Gln1338His | |
| NM_001005731.2:c.4014G>C (ITGB4) | NP_001005731.1:p.Gln1338His | |
| NM_001321123.1:c.4014G>C (ITGB4) | NP_001308052.1:p.Gln1338His | |
| XM_005257311.4:c.4014G>C (ITGB4) | XP_005257368.1:p.Gln1338His | |
| XM_006721866.3:c.4119G>C (ITGB4) | XP_006721929.1:p.Gln1373His | |
| XM_006721867.3:c.4119G>C (ITGB4) | XP_006721930.1:p.Gln1373His | |
| XM_006721868.3:c.4119G>C (ITGB4) | XP_006721931.1:p.Gln1373His | |
| XM_006721870.3:c.4119G>C (ITGB4) | XP_006721933.1:p.Gln1373His | |
| XM_011524751.2:c.4119G>C (ITGB4) | XP_011523053.1:p.Gln1373His | |
| XM_011524752.2:c.1959G>C (ITGB4) | XP_011523054.1:p.Gln653His | |
| NM_000213.5:c.4014G>C (ITGB4) MANE Select | NP_000204.3:p.Gln1338His | |
| NM_001005731.3:c.4014G>C (ITGB4) | NP_001005731.1:p.Gln1338His | |
| NM_001321123.2:c.4014G>C (ITGB4) | NP_001308052.1:p.Gln1338His | |
| NM_001381985.1:c.*23-746C>G (GALK1) | NP_001368914.1:n.*23-746C>G |