Linked Data
dbSNP Id:
rs2071676
ExAC:
9:35674053 G / A
gnomAD v2:
9-35674053-G-A
gnomAD v3:
9-35674056-G-A
gnomAD v4:
9-35674056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35674056G>A , CM000671.2:g.35674056G>A | GRCh38 |
| NC_000009.11:g.35674053G>A , CM000671.1:g.35674053G>A | GRCh37 |
| NC_000009.10:g.35664053G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378357.9:c.97G>A (CA9) MANE Select | ENSP00000367608.4:p.Val33Met | |
| ENST00000378357.8:c.97G>A (CA9) | ENSP00000367608.4:p.Val33Met | |
| ENST00000490638.5:c.-341C>T (ARHGEF39) | ENSP00000436756.1:n.-341C>T | |
| ENST00000617161.1:c.97G>A (CA9) | ENSP00000482050.1:p.Val33Met | |
| NM_001216.2:c.97G>A (CA9) | NP_001207.2:p.Val33Met | |
| XM_006716869.2:c.97G>A (CA9) | XP_006716932.1:p.Val33Met | |
| XM_006716870.2:c.97G>A (CA9) | XP_006716933.1:p.Val33Met | |
| XR_428428.2:n.121G>A (CA9) | ||
| XR_929358.1:n.48+1635C>T (ARHGEF39) | ||
| XR_929360.1:n.93+899C>T (ARHGEF39) | ||
| XR_001746374.2:n.248G>A (CA9) | ||
| XR_428428.3:n.196G>A (CA9) | ||
| NM_001216.3:c.97G>A (CA9) MANE Select | NP_001207.2:p.Val33Met |