Linked Data
dbSNP Id:
rs12342373
gnomAD v2:
9-129402567-G-A
gnomAD v3:
9-126640288-G-A
gnomAD v4:
9-126640288-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.126640288G>A , CM000671.2:g.126640288G>A | GRCh38 |
| NC_000009.11:g.129402567G>A , CM000671.1:g.129402567G>A | GRCh37 |
| NC_000009.10:g.128442388G>A | NCBI36 |
| NG_017039.1:g.30846G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355497.10:c.326+24719G>A | ENSP00000347684.5:n.326+24719G>A | |
| ENST00000373474.9:c.326+24719G>A MANE Select | ENSP00000362573.3:n.326+24719G>A | |
| ENST00000526117.6:c.326+24719G>A | ENSP00000436930.1:n.326+24719G>A | |
| ENST00000355497.9:c.326+24719G>A | ENSP00000347684.5:n.326+24719G>A | |
| ENST00000373474.8:c.326+24719G>A | ENSP00000362573.3:n.326+24719G>A | |
| ENST00000526117.5:c.326+24719G>A | ENSP00000436930.1:n.326+24719G>A | |
| ENST00000561065.1:c.257+24719G>A | ENSP00000453580.1:n.257+24719G>A | |
| NM_001174146.1:c.326+24719G>A | NP_001167617.1:n.326+24719G>A | |
| NM_001174147.1:c.326+24719G>A | NP_001167618.1:n.326+24719G>A | |
| NM_002316.3:c.326+24719G>A | NP_002307.2:n.326+24719G>A | |
| NM_001174146.2:c.326+24719G>A | NP_001167617.1:n.326+24719G>A | |
| NM_001174147.2:c.326+24719G>A MANE Select | NP_001167618.1:n.326+24719G>A | |
| NM_002316.4:c.326+24719G>A | NP_002307.2:n.326+24719G>A |