Linked Data
dbSNP Id:
rs1823674061
gnomAD v3:
9-37436668-G-T
gnomAD v4:
9-37436668-G-T
MyVariant Identifiers:
chr9:g.37436665G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436668G>T , CM000671.2:g.37436668G>T | GRCh38 |
| NC_000009.11:g.37436665G>T , CM000671.1:g.37436665G>T | GRCh37 |
| NC_000009.10:g.37426665G>T | NCBI36 |
| NG_008135.1:g.18959G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.873G>T MANE Select | ENSP00000313432.6:p.Leu291= | |
| ENST00000318158.10:c.873G>T | ENSP00000313432.6:p.Leu291= | |
| ENST00000460882.5:n.900G>T | ||
| ENST00000480596.5:n.1574G>T | ||
| ENST00000491488.5:n.578G>T | ||
| ENST00000494290.1:c.*52-213G>T | ENSP00000432021.1:n.*52-213G>T | |
| ENST00000497693.1:n.4441G>T | ||
| NM_012203.1:c.873G>T | NP_036335.1:p.Leu291= | |
| XM_005251631.1:c.552G>T | XP_005251688.1:p.Leu184= | |
| XM_011518073.1:c.471G>T | XP_011516375.1:p.Leu157= | |
| XM_017015320.2:c.946-743G>T | XP_016870809.1:n.946-743G>T | |
| XM_017015321.2:c.866-743G>T | XP_016870810.1:n.866-743G>T | |
| XM_017015323.2:c.544-743G>T | XP_016870812.1:n.544-743G>T | |
| XM_024447716.1:c.1219-743G>T | XP_024303484.1:n.1219-743G>T | |
| XM_024447717.1:c.1139-743G>T | XP_024303485.1:n.1139-743G>T | |
| XR_002956828.1:n.1234-743G>T | ||
| XR_002956829.1:n.1154-743G>T | ||
| XR_002956830.1:n.2293G>T | ||
| XR_002956831.1:n.1968G>T | ||
| XR_002956832.1:n.1292G>T | ||
| NM_012203.2:c.873G>T MANE Select | NP_036335.1:p.Leu291= |