Linked Data
dbSNP Id:
rs10838532
gnomAD v2:
11-45947464-G-C
gnomAD v3:
11-45925913-G-C
gnomAD v4:
11-45925913-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45925913G>C , CM000673.2:g.45925913G>C | GRCh38 |
| NC_000011.9:g.45947464G>C , CM000673.1:g.45947464G>C | GRCh37 |
| NC_000011.8:g.45904040G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401752.6:c.770-126G>C MANE Select | ENSP00000385235.1:n.770-126G>C | |
| ENST00000325468.9:c.770-126G>C | ENSP00000324570.5:n.770-126G>C | |
| ENST00000401752.5:c.770-126G>C | ENSP00000385235.1:n.770-126G>C | |
| ENST00000414027.2:n.274-309G>C | ||
| ENST00000525609.5:n.330-309G>C | ||
| ENST00000528236.5:n.406-126G>C | ||
| ENST00000529052.5:c.677-126G>C | ENSP00000431932.1:n.677-126G>C | |
| ENST00000531526.5:c.770-126G>C | ENSP00000432869.1:n.770-126G>C | |
| NM_001300721.1:c.770-126G>C | NP_001287650.1:n.770-126G>C | |
| NM_001300722.1:c.677-126G>C | NP_001287651.1:n.677-126G>C | |
| NM_152312.4:c.770-126G>C | NP_689525.3:n.770-126G>C | |
| XM_005252787.2:c.163-309G>C | XP_005252844.1:n.163-309G>C | |
| XM_006718140.1:c.677-126G>C | XP_006718203.1:n.677-126G>C | |
| XM_006718141.2:c.770-126G>C | XP_006718204.1:n.770-126G>C | |
| XM_011519886.1:c.770-126G>C | XP_011518188.1:n.770-126G>C | |
| XM_011519887.1:c.770-126G>C | XP_011518189.1:n.770-126G>C | |
| XM_011519888.1:c.770-126G>C | XP_011518190.1:n.770-126G>C | |
| XM_011519889.1:c.677-126G>C | XP_011518191.1:n.677-126G>C | |
| XM_011519890.1:c.770-126G>C | XP_011518192.1:n.770-126G>C | |
| XM_011519891.1:c.770-126G>C | XP_011518193.1:n.770-126G>C | |
| XM_011519892.1:c.770-126G>C | XP_011518194.1:n.770-126G>C | |
| XM_011519893.1:c.770-126G>C | XP_011518195.1:n.770-126G>C | |
| XM_006718141.4:c.770-126G>C | XP_006718204.1:n.770-126G>C | |
| XM_011519892.2:c.770-126G>C | XP_011518194.1:n.770-126G>C | |
| XM_017017173.1:c.770-126G>C | XP_016872662.1:n.770-126G>C | |
| NM_001300721.2:c.770-126G>C MANE Select | NP_001287650.1:n.770-126G>C | |
| NM_001300722.2:c.677-126G>C | NP_001287651.1:n.677-126G>C | |
| NM_152312.5:c.770-126G>C | NP_689525.3:n.770-126G>C |