Linked Data
ClinVar Variation Id:
427140
dbSNP Id:
rs142835989
ExAC:
9:37436747 G / T
gnomAD v2:
9-37436747-G-T
gnomAD v3:
9-37436750-G-T
gnomAD v4:
9-37436750-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37436750G>T , CM000671.2:g.37436750G>T | GRCh38 |
| NC_000009.11:g.37436747G>T , CM000671.1:g.37436747G>T | GRCh37 |
| NC_000009.10:g.37426747G>T | NCBI36 |
| NG_008135.1:g.19041G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.955G>T MANE Select | ENSP00000313432.6:p.Gly319Trp | |
| ENST00000318158.10:c.955G>T | ENSP00000313432.6:p.Gly319Trp | |
| ENST00000460882.5:n.982G>T | ||
| ENST00000480596.5:n.1656G>T | ||
| ENST00000494290.1:c.*52-131G>T | ENSP00000432021.1:n.*52-131G>T | |
| ENST00000497693.1:n.4523G>T | ||
| NM_012203.1:c.955G>T | NP_036335.1:p.Gly319Trp | |
| XM_005251631.1:c.634G>T | XP_005251688.1:p.Gly212Trp | |
| XM_011518073.1:c.553G>T | XP_011516375.1:p.Gly185Trp | |
| XM_017015320.2:c.946-661G>T | XP_016870809.1:n.946-661G>T | |
| XM_017015321.2:c.866-661G>T | XP_016870810.1:n.866-661G>T | |
| XM_017015323.2:c.544-661G>T | XP_016870812.1:n.544-661G>T | |
| XM_024447716.1:c.1219-661G>T | XP_024303484.1:n.1219-661G>T | |
| XM_024447717.1:c.1139-661G>T | XP_024303485.1:n.1139-661G>T | |
| XR_002956828.1:n.1234-661G>T | ||
| XR_002956829.1:n.1154-661G>T | ||
| XR_002956830.1:n.2375G>T | ||
| XR_002956831.1:n.2050G>T | ||
| XR_002956832.1:n.1374G>T | ||
| NM_012203.2:c.955G>T MANE Select | NP_036335.1:p.Gly319Trp |