Linked Data
dbSNP Id:
rs1564305364
gnomAD v2:
9-37436630-T-A
gnomAD v4:
9-37436633-T-A
MyVariant Identifiers:
chr9:g.37436630_37436632delinsACC (hg19)
chr9:g.37436633_37436635delinsACC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436633T>A , CM000671.2:g.37436633T>A | GRCh38 |
| NC_000009.11:g.37436630T>A , CM000671.1:g.37436630T>A | GRCh37 |
| NC_000009.10:g.37426630T>A | NCBI36 |
| NG_008135.1:g.18924T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.866-28T>A MANE Select | ENSP00000313432.6:n.866-28T>A | |
| ENST00000318158.10:c.866-28T>A | ENSP00000313432.6:n.866-28T>A | |
| ENST00000460882.5:n.893-28T>A | ||
| ENST00000480596.5:n.1567-28T>A | ||
| ENST00000491488.5:n.571-28T>A | ||
| ENST00000494290.1:c.*52-248T>A | ENSP00000432021.1:n.*52-248T>A | |
| ENST00000497693.1:n.4434-28T>A | ||
| NM_012203.1:c.866-28T>A | NP_036335.1:n.866-28T>A | |
| XM_005251631.1:c.545-28T>A | XP_005251688.1:n.545-28T>A | |
| XM_011518073.1:c.464-28T>A | XP_011516375.1:n.464-28T>A | |
| XM_017015320.2:c.946-778T>A | XP_016870809.1:n.946-778T>A | |
| XM_017015321.2:c.866-778T>A | XP_016870810.1:n.866-778T>A | |
| XM_017015323.2:c.544-778T>A | XP_016870812.1:n.544-778T>A | |
| XM_024447716.1:c.1219-778T>A | XP_024303484.1:n.1219-778T>A | |
| XM_024447717.1:c.1139-778T>A | XP_024303485.1:n.1139-778T>A | |
| XR_002956828.1:n.1234-778T>A | ||
| XR_002956829.1:n.1154-778T>A | ||
| XR_002956830.1:n.2286-28T>A | ||
| XR_002956831.1:n.1961-28T>A | ||
| XR_002956832.1:n.1285-28T>A | ||
| NM_012203.2:c.866-28T>A MANE Select | NP_036335.1:n.866-28T>A |