Linked Data
dbSNP Id:
rs12956925
gnomAD v2:
18-60013640-G-A
gnomAD v3:
18-62346407-G-A
gnomAD v4:
18-62346407-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62346407G>A , CM000680.2:g.62346407G>A | GRCh38 |
| NC_000018.9:g.60013640G>A , CM000680.1:g.60013640G>A | GRCh37 |
| NC_000018.8:g.58164620G>A | NCBI36 |
| NG_008098.1:g.26093G>A , LRG_194:g.26093G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586569.3:c.76-1761G>A MANE Select | ENSP00000465500.1:n.76-1761G>A | |
| ENST00000639222.1:c.76-1761G>A | ENSP00000492422.1:n.76-1761G>A | |
| ENST00000269485.11:c.76-1761G>A | ENSP00000269485.7:n.76-1761G>A | |
| ENST00000586569.2:c.76-1761G>A | ENSP00000465500.1:n.76-1761G>A | |
| ENST00000616710.4:c.76-1761G>A | ENSP00000479567.1:n.76-1761G>A | |
| ENST00000617039.4:c.76-1761G>A | ENSP00000482466.1:n.76-1761G>A | |
| NM_001270949.1:c.76-1761G>A | NP_001257878.1:n.76-1761G>A | |
| NM_001270950.1:c.76-1761G>A | NP_001257879.1:n.76-1761G>A | |
| NM_001270951.1:c.76-1761G>A | NP_001257880.1:n.76-1761G>A | |
| NM_001278268.1:c.76-1761G>A | NP_001265197.1:n.76-1761G>A | |
| NM_003839.3:c.76-1761G>A | NP_003830.1:n.76-1761G>A | |
| XM_011526244.1:c.76-1761G>A | XP_011524546.1:n.76-1761G>A | |
| XM_011526245.1:c.-43-1761G>A | XP_011524547.1:n.-43-1761G>A | |
| XR_935263.1:n.91-1761G>A | ||
| XM_011526244.2:c.76-1761G>A | XP_011524546.1:n.76-1761G>A | |
| XM_011526245.2:c.-43-1761G>A | XP_011524547.1:n.-43-1761G>A | |
| XM_017026064.1:c.-43-1761G>A | XP_016881553.1:n.-43-1761G>A | |
| NM_003839.4:c.76-1761G>A MANE Select | NP_003830.1:n.76-1761G>A | |
| NM_001270951.2:c.76-1761G>A | NP_001257880.1:n.76-1761G>A | |
| NM_001278268.2:c.76-1761G>A | NP_001265197.1:n.76-1761G>A | |
| NM_001270949.2:c.76-1761G>A | NP_001257878.1:n.76-1761G>A | |
| NM_001270950.2:c.76-1761G>A | NP_001257879.1:n.76-1761G>A |