Linked Data
dbSNP Id:
rs11210617
gnomAD v2:
1-42764188-C-T
gnomAD v3:
1-42298517-C-T
gnomAD v4:
1-42298517-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42298517C>T , CM000663.2:g.42298517C>T | GRCh38 |
| NC_000001.10:g.42764188C>T , CM000663.1:g.42764188C>T | GRCh37 |
| NC_000001.9:g.42536775C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361346.6:c.44+12533G>A MANE Select | ENSP00000354620.1:n.44+12533G>A | |
| ENST00000361346.5:c.44+12533G>A | ENSP00000354620.1:n.44+12533G>A | |
| ENST00000361776.5:c.44+12533G>A | ENSP00000354449.1:n.44+12533G>A | |
| ENST00000372572.5:c.44+12533G>A | ENSP00000361653.1:n.44+12533G>A | |
| ENST00000372573.5:c.44+12533G>A | ENSP00000361654.1:n.44+12533G>A | |
| ENST00000445886.5:c.44+12533G>A | ENSP00000393408.1:n.44+12533G>A | |
| ENST00000545068.5:c.44+12533G>A | ENSP00000439044.1:n.44+12533G>A | |
| NM_001198850.1:c.44+12533G>A | NP_001185779.1:n.44+12533G>A | |
| NM_001198851.1:c.44+12533G>A | NP_001185780.1:n.44+12533G>A | |
| NM_001198852.1:c.44+12533G>A | NP_001185781.1:n.44+12533G>A | |
| NM_014947.4:c.44+12533G>A | NP_055762.3:n.44+12533G>A | |
| XM_006710458.2:c.-114+12533G>A | XP_006710521.1:n.-114+12533G>A | |
| XM_011541026.1:c.44+12533G>A | XP_011539328.1:n.44+12533G>A | |
| XM_006710458.4:c.-114+12533G>A | XP_006710521.1:n.-114+12533G>A | |
| XM_011541026.2:c.44+12533G>A | XP_011539328.1:n.44+12533G>A | |
| XM_017000693.2:c.-114+12533G>A | XP_016856182.1:n.-114+12533G>A | |
| XM_024454163.1:c.44+12533G>A | XP_024309931.1:n.44+12533G>A | |
| NM_014947.5:c.44+12533G>A MANE Select | NP_055762.3:n.44+12533G>A | |
| NM_001198850.2:c.44+12533G>A | NP_001185779.1:n.44+12533G>A | |
| NM_001198851.2:c.44+12533G>A | NP_001185780.1:n.44+12533G>A | |
| NM_001198852.2:c.44+12533G>A | NP_001185781.1:n.44+12533G>A |