Linked Data
ClinVar Variation Id:
225396
ClinVar RCV Id:
RCV000490437
dbSNP Id:
rs762236241
ExAC:
17:73753393 T / C
gnomAD v2:
17-73753393-T-C
gnomAD v4:
17-75757312-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75757312T>C , CM000679.2:g.75757312T>C | GRCh38 |
| NC_000017.10:g.73753393T>C , CM000679.1:g.73753393T>C | GRCh37 |
| NC_000017.9:g.71264988T>C | NCBI36 |
| NG_007372.1:g.40878T>C | |
| NG_008079.1:g.12888A>G | |
| NG_008079.2:g.12888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.5278+2T>C (ITGB4) | ENSP00000400217.2:n.5278+2T>C | |
| ENST00000200181.8:c.5329+2T>C (ITGB4) MANE Select | ENSP00000200181.3:n.5329+2T>C | |
| ENST00000200181.7:c.5329+2T>C (ITGB4) | ENSP00000200181.3:n.5329+2T>C | |
| ENST00000225614.6:c.*22+722A>G (GALK1) | ENSP00000225614.1:n.*22+722A>G | |
| ENST00000449880.6:c.5278+2T>C (ITGB4) | ENSP00000400217.2:n.5278+2T>C | |
| ENST00000450894.7:c.5119+2T>C (ITGB4) | ENSP00000405536.3:n.5119+2T>C | |
| ENST00000578318.1:c.182T>C (ITGB4) | ||
| ENST00000579662.5:c.5119+2T>C (ITGB4) | ENSP00000463651.1:n.5119+2T>C | |
| ENST00000582629.1:c.266-314T>C (ITGB4) | ENSP00000463788.1:n.266-314T>C | |
| ENST00000589643.1:n.254+722A>G (GALK1) | ||
| NM_000213.3:c.5329+2T>C (ITGB4) | NP_000204.3:n.5329+2T>C | |
| NM_001005619.1:c.5278+2T>C (ITGB4) | NP_001005619.1:n.5278+2T>C | |
| NM_001005731.1:c.5119+2T>C (ITGB4) | NP_001005731.1:n.5119+2T>C | |
| XM_005257309.2:c.5488+2T>C (ITGB4) | XP_005257366.1:n.5488+2T>C | |
| XM_005257311.3:c.5488+2T>C (ITGB4) | XP_005257368.1:n.5488+2T>C | |
| XM_005257312.2:c.5119+2T>C (ITGB4) | XP_005257369.1:n.5119+2T>C | |
| XM_006721866.2:c.5593+2T>C (ITGB4) | XP_006721929.1:n.5593+2T>C | |
| XM_006721867.2:c.5434+2T>C (ITGB4) | XP_006721930.1:n.5434+2T>C | |
| XM_006721868.2:c.5383+2T>C (ITGB4) | XP_006721931.1:n.5383+2T>C | |
| XM_006721870.2:c.5224+2T>C (ITGB4) | XP_006721933.1:n.5224+2T>C | |
| XM_011524751.1:c.5284+2T>C (ITGB4) | XP_011523053.1:n.5284+2T>C | |
| XM_011524752.1:c.3433+2T>C (ITGB4) | XP_011523054.1:n.3433+2T>C | |
| NM_000213.4:c.5329+2T>C (ITGB4) | NP_000204.3:n.5329+2T>C | |
| NM_001005731.2:c.5119+2T>C (ITGB4) | NP_001005731.1:n.5119+2T>C | |
| NM_001321123.1:c.5119+2T>C (ITGB4) | NP_001308052.1:n.5119+2T>C | |
| XM_005257311.4:c.5488+2T>C (ITGB4) | XP_005257368.1:n.5488+2T>C | |
| XM_006721866.3:c.5593+2T>C (ITGB4) | XP_006721929.1:n.5593+2T>C | |
| XM_006721867.3:c.5434+2T>C (ITGB4) | XP_006721930.1:n.5434+2T>C | |
| XM_006721868.3:c.5383+2T>C (ITGB4) | XP_006721931.1:n.5383+2T>C | |
| XM_006721870.3:c.5224+2T>C (ITGB4) | XP_006721933.1:n.5224+2T>C | |
| XM_011524751.2:c.5284+2T>C (ITGB4) | XP_011523053.1:n.5284+2T>C | |
| XM_011524752.2:c.3433+2T>C (ITGB4) | XP_011523054.1:n.3433+2T>C | |
| NM_000213.5:c.5329+2T>C (ITGB4) MANE Select | NP_000204.3:n.5329+2T>C | |
| NM_001005731.3:c.5119+2T>C (ITGB4) | NP_001005731.1:n.5119+2T>C | |
| NM_001321123.2:c.5119+2T>C (ITGB4) | NP_001308052.1:n.5119+2T>C | |
| NM_001381985.1:c.*22+722A>G (GALK1) | NP_001368914.1:n.*22+722A>G |