Linked Data
dbSNP Id:
rs762063073
ExAC:
7:95750940 T / A
gnomAD v2:
7-95750940-T-A
gnomAD v4:
7-96121628-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96121628T>A , CM000669.2:g.96121628T>A | GRCh38 |
| NC_000007.13:g.95750940T>A , CM000669.1:g.95750940T>A | GRCh37 |
| NC_000007.12:g.95588876T>A | NCBI36 |
| NG_012247.1:g.205520A>T | |
| NG_012247.2:g.205520A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265631.10:c.1841+27A>T MANE Select | ENSP00000265631.6:n.1841+27A>T | |
| ENST00000265631.9:c.1841+27A>T | ENSP00000265631.5:n.1841+27A>T | |
| ENST00000416240.6:c.1844+27A>T | ENSP00000400101.2:n.1844+27A>T | |
| ENST00000494085.1:n.344+27A>T | ||
| NM_001160210.1:c.1844+27A>T | NP_001153682.1:n.1844+27A>T | |
| NM_014251.2:c.1841+27A>T | NP_055066.1:n.1841+27A>T | |
| NR_027662.1:n.1916+27A>T | ||
| XM_006715831.2:c.1874+27A>T | XP_006715894.1:n.1874+27A>T | |
| XM_011515728.1:c.989+27A>T | XP_011514030.1:n.989+27A>T | |
| XM_006715831.4:c.1874+27A>T | XP_006715894.1:n.1874+27A>T | |
| XM_017011663.1:c.1832+27A>T | XP_016867152.1:n.1832+27A>T | |
| XM_017011664.2:c.989+27A>T | XP_016867153.1:n.989+27A>T | |
| XM_017011665.1:c.989+27A>T | XP_016867154.1:n.989+27A>T | |
| XR_001744525.2:n.2087+27A>T | ||
| XR_002956405.1:n.2645+27A>T | ||
| NM_014251.3:c.1841+27A>T MANE Select | NP_055066.1:n.1841+27A>T | |
| NR_027662.2:n.1867+27A>T | ||
| NM_001160210.2:c.1844+27A>T | NP_001153682.1:n.1844+27A>T |