Linked Data
dbSNP Id:
rs12010175
gnomAD v2:
X-152862638-A-G
gnomAD v3:
X-153597180-A-G
gnomAD v4:
X-153597180-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153597180A>G , CM000685.2:g.153597180A>G | GRCh38 |
| NC_000023.10:g.152862638A>G , CM000685.1:g.152862638A>G | GRCh37 |
| NC_000023.9:g.152515832A>G | NCBI36 |
| NG_008393.2:g.6998T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576892.8:c.113-993T>C MANE Select | ENSP00000461135.1:n.113-993T>C | |
| ENST00000440428.5:c.113-993T>C | ENSP00000402949.2:n.113-993T>C | |
| ENST00000482182.3:c.-14-993T>C | ENSP00000466345.1:n.-14-993T>C | |
| ENST00000576892.7:c.113-993T>C | ENSP00000461135.1:n.113-993T>C | |
| ENST00000614850.1:c.94-993T>C | ||
| ENST00000614851.4:c.67-993T>C | ||
| ENST00000620088.4:c.109-993T>C | ENSP00000484108.1:n.109-993T>C | |
| ENST00000621629.4:c.109-993T>C | ENSP00000478747.1:n.109-993T>C | |
| ENST00000621817.1:c.*277+242T>C | ENSP00000481634.1:n.*277+242T>C | |
| NM_001130997.2:c.113-993T>C | NP_001124469.1:n.113-993T>C | |
| NM_152274.4:c.113-993T>C | NP_689487.2:n.113-993T>C | |
| XM_005277920.3:c.113-993T>C | XP_005277977.1:n.113-993T>C | |
| XM_005277921.3:c.113-993T>C | XP_005277978.1:n.113-993T>C | |
| XM_011531213.1:c.-14-993T>C | XP_011529515.1:n.-14-993T>C | |
| XM_011531214.1:c.-15+242T>C | XP_011529516.1:n.-15+242T>C | |
| XM_011531215.1:c.-14-993T>C | XP_011529517.1:n.-14-993T>C | |
| XM_005277920.4:c.113-993T>C | XP_005277977.1:n.113-993T>C | |
| XM_005277921.4:c.113-993T>C | XP_005277978.1:n.113-993T>C | |
| XM_011531214.2:c.-15+242T>C | XP_011529516.1:n.-15+242T>C | |
| XM_011531215.2:c.-14-993T>C | XP_011529517.1:n.-14-993T>C | |
| XR_002958810.1:n.205-993T>C | ||
| NM_152274.5:c.113-993T>C MANE Select | NP_689487.2:n.113-993T>C | |
| NM_001130997.3:c.113-993T>C | NP_001124469.1:n.113-993T>C |