Linked Data
dbSNP Id:
rs2639990
gnomAD v2:
18-72915551-T-C
gnomAD v3:
18-75203596-T-C
gnomAD v4:
18-75203596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.75203596T>C , CM000680.2:g.75203596T>C | GRCh38 |
| NC_000018.9:g.72915551T>C , CM000680.1:g.72915551T>C | GRCh37 |
| NC_000018.8:g.71044539T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322342.4:c.210-1256A>G MANE Select | ENSP00000323678.3:n.210-1256A>G | |
| ENST00000322342.3:c.210-1256A>G | ENSP00000323678.3:n.210-1256A>G | |
| ENST00000537114.2:c.-160-1256A>G | ENSP00000440111.2:n.-160-1256A>G | |
| ENST00000581620.1:c.-160-1256A>G | ENSP00000463844.1:n.-160-1256A>G | |
| ENST00000582437.1:c.-160-1256A>G | ENSP00000463106.1:n.-160-1256A>G | |
| NM_001306093.1:c.-160-1256A>G | NP_001293022.1:n.-160-1256A>G | |
| NM_175907.4:c.210-1256A>G | NP_787103.1:n.210-1256A>G | |
| NM_175907.5:c.210-1256A>G | NP_787103.1:n.210-1256A>G | |
| XM_005266686.3:c.-160-1256A>G | XP_005266743.1:n.-160-1256A>G | |
| XM_005266687.3:c.-160-1256A>G | XP_005266744.1:n.-160-1256A>G | |
| XM_024451166.1:c.-160-1256A>G | XP_024306934.1:n.-160-1256A>G | |
| NM_175907.6:c.210-1256A>G MANE Select | NP_787103.1:n.210-1256A>G |