Linked Data
dbSNP Id:
rs1006113
gnomAD v2:
4-8390311-G-A
gnomAD v3:
4-8388584-G-A
gnomAD v4:
4-8388584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.8388584G>A , CM000666.2:g.8388584G>A | GRCh38 |
| NC_000004.11:g.8390311G>A , CM000666.1:g.8390311G>A | GRCh37 |
| NC_000004.10:g.8441211G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356406.10:c.1537+589C>T MANE Select | ENSP00000348775.4:n.1537+589C>T | |
| ENST00000356406.9:c.1537+589C>T | ENSP00000348775.4:n.1537+589C>T | |
| ENST00000413009.6:c.1537+589C>T | ENSP00000413994.2:n.1537+589C>T | |
| ENST00000503233.5:c.1537+589C>T | ENSP00000421625.1:n.1537+589C>T | |
| ENST00000508302.1:n.522+589C>T | ||
| ENST00000510365.5:n.1249+589C>T | ||
| NM_001101667.1:c.1537+589C>T | NP_001095137.1:n.1537+589C>T | |
| NM_003501.2:c.1537+589C>T | NP_003492.2:n.1537+589C>T | |
| XM_005248011.3:c.1537+589C>T | XP_005248068.1:n.1537+589C>T | |
| XM_005248012.3:c.1537+589C>T | XP_005248069.1:n.1537+589C>T | |
| XM_005248013.3:c.1537+589C>T | XP_005248070.1:n.1537+589C>T | |
| XM_011513565.1:c.1537+589C>T | XP_011511867.1:n.1537+589C>T | |
| XM_011513566.1:c.1537+589C>T | XP_011511868.1:n.1537+589C>T | |
| XM_011513567.1:c.1538-212C>T | XP_011511869.1:n.1538-212C>T | |
| XR_925000.1:n.1682+589C>T | ||
| XM_005248011.4:c.1537+589C>T | XP_005248068.1:n.1537+589C>T | |
| XM_011513565.2:c.1537+589C>T | XP_011511867.1:n.1537+589C>T | |
| XM_024454237.1:c.1538-212C>T | XP_024310005.1:n.1538-212C>T | |
| NM_003501.3:c.1537+589C>T MANE Select | NP_003492.2:n.1537+589C>T | |
| NM_001101667.2:c.1537+589C>T | NP_001095137.1:n.1537+589C>T | |
| NM_001375783.1:c.1537+589C>T | NP_001362712.1:n.1537+589C>T | |
| NM_001375784.1:c.1465+589C>T | NP_001362713.1:n.1465+589C>T | |
| NM_001375785.1:c.1537+589C>T | NP_001362714.1:n.1537+589C>T | |
| NM_001375786.1:c.1537+589C>T | NP_001362715.1:n.1537+589C>T | |
| NM_001375787.1:c.1537+589C>T | NP_001362716.1:n.1537+589C>T | |
| NM_001375788.1:c.1537+589C>T | NP_001362717.1:n.1537+589C>T | |
| NM_001375789.1:c.1252+589C>T | NP_001362718.1:n.1252+589C>T | |
| NM_001375790.1:c.1537+589C>T | NP_001362719.1:n.1537+589C>T |