Linked Data
ClinVar Variation Id:
476906
dbSNP Id:
rs199514987
ExAC:
5:148389867 G / A
gnomAD v2:
5-148389867-G-A
gnomAD v3:
5-149010304-G-A
gnomAD v4:
5-149010304-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149010304G>A , CM000667.2:g.149010304G>A | GRCh38 |
| NC_000005.9:g.148389867G>A , CM000667.1:g.148389867G>A | GRCh37 |
| NC_000005.8:g.148370060G>A | NCBI36 |
| NG_007947.2:g.57871C>T , LRG_269:g.57871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.3189C>T | ||
| ENST00000515425.6:c.3293C>T MANE Select | ENSP00000423660.1:p.Thr1098Ile | |
| ENST00000675793.1:c.*2577C>T | ENSP00000502039.1:n.*2577C>T | |
| ENST00000323829.9:c.*2681C>T | ENSP00000313025.5:n.*2681C>T | |
| ENST00000504517.5:c.2823C>T | ENSP00000421779.1:n.2823C>T | |
| ENST00000504690.5:c.3293C>T | ENSP00000425627.1:p.Thr1098Ile | |
| ENST00000510779.1:c.2343C>T | ||
| ENST00000512049.5:c.3272C>T | ENSP00000421860.1:p.Thr1091Ile | |
| ENST00000515425.5:c.3293C>T | ENSP00000423660.1:p.Thr1098Ile | |
| NM_024577.3:c.3293C>T , LRG_269t1:c.3293C>T | NP_078853.2:p.Thr1098Ile | |
| NM_024577.4:c.3293C>T MANE Select | NP_078853.2:p.Thr1098Ile |