Linked Data
dbSNP Id:
rs2630778
gnomAD v2:
12-39050589-G-A
gnomAD v3:
12-38656787-G-A
gnomAD v4:
12-38656787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.38656787G>A , CM000674.2:g.38656787G>A | GRCh38 |
| NC_000012.11:g.39050589G>A , CM000674.1:g.39050589G>A | GRCh37 |
| NC_000012.10:g.37336856G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331366.10:c.1507-2717C>T MANE Select | ENSP00000329748.5:n.1507-2717C>T | |
| ENST00000331366.9:c.1507-2717C>T | ENSP00000329748.5:n.1507-2717C>T | |
| ENST00000360449.3:c.1471-2717C>T | ENSP00000353633.3:n.1471-2717C>T | |
| ENST00000538596.6:c.514-2717C>T | ENSP00000439237.2:n.514-2717C>T | |
| ENST00000546603.5:n.337-2717C>T | ||
| ENST00000547417.1:n.268-2717C>T | ||
| ENST00000552259.5:n.281-9694C>T | ||
| NM_153634.2:c.1507-2717C>T | NP_705898.1:n.1507-2717C>T | |
| XR_944501.1:n.2219-2717C>T | ||
| XM_017018852.1:c.1024-2717C>T | XP_016874341.1:n.1024-2717C>T | |
| XR_944501.3:n.1675-2717C>T | ||
| NM_153634.3:c.1507-2717C>T MANE Select | NP_705898.1:n.1507-2717C>T |