Linked Data
dbSNP Id:
rs12029454
gnomAD v2:
1-162133117-G-A
gnomAD v3:
1-162163327-G-A
gnomAD v4:
1-162163327-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162163327G>A , CM000663.2:g.162163327G>A | GRCh38 |
| NC_000001.10:g.162133117G>A , CM000663.1:g.162133117G>A | GRCh37 |
| NC_000001.9:g.160399741G>A | NCBI36 |
| NG_015979.1:g.98537G>A | |
| NG_015979.2:g.98537G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361897.10:c.177+8851G>A MANE Select | ENSP00000355133.5:n.177+8851G>A | |
| ENST00000361897.9:c.177+8851G>A | ENSP00000355133.5:n.177+8851G>A | |
| ENST00000430120.3:c.177+8851G>A | ENSP00000396713.3:n.177+8851G>A | |
| ENST00000530878.5:c.177+8851G>A | ENSP00000431586.1:n.177+8851G>A | |
| NM_001164757.1:c.177+8851G>A | NP_001158229.1:n.177+8851G>A | |
| NM_014697.2:c.177+8851G>A | NP_055512.1:n.177+8851G>A | |
| XR_922217.1:n.712+4955C>T | ||
| XR_922218.1:n.713-3944C>T | ||
| XR_922219.1:n.712+4955C>T | ||
| XR_922220.1:n.713-735C>T | ||
| XR_922221.1:n.712+4955C>T | ||
| XR_922222.1:n.713-1102C>T | ||
| XR_002958374.1:n.3671-3944C>T | ||
| XR_002958375.1:n.3670+4955C>T | ||
| XR_002958376.1:n.3671-1102C>T | ||
| XR_002958378.1:n.3670+4955C>T | ||
| XR_922216.3:n.6416C>T | ||
| NM_014697.3:c.177+8851G>A MANE Select | NP_055512.1:n.177+8851G>A | |
| NM_001164757.2:c.177+8851G>A | NP_001158229.1:n.177+8851G>A |