Linked Data
ClinVar Variation Id:
2988270
ClinVar RCV Id:
RCV003844453
dbSNP Id:
rs767177216
ExAC:
5:149452989 G / A
gnomAD v2:
5-149452989-G-A
gnomAD v4:
5-150073426-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150073426G>A , CM000667.2:g.150073426G>A | GRCh38 |
| NC_000005.9:g.149452989G>A , CM000667.1:g.149452989G>A | GRCh37 |
| NC_000005.8:g.149433182G>A | NCBI36 |
| NG_012303.1:g.44947C>T | |
| NG_012303.2:g.44947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.957C>T MANE Select | ENSP00000501699.1:p.Leu319= | |
| ENST00000286301.7:c.957C>T | ENSP00000286301.3:p.Leu319= | |
| ENST00000504875.5:c.957C>T | ENSP00000422212.1:p.Leu319= | |
| ENST00000543093.1:c.890-2855C>T | ENSP00000445282.1:n.890-2855C>T | |
| NM_001288705.1:c.957C>T | NP_001275634.1:p.Leu319= | |
| NM_005211.3:c.957C>T | NP_005202.2:p.Leu319= | |
| NR_109969.1:n.1170C>T | ||
| NM_001288705.2:c.957C>T | NP_001275634.1:p.Leu319= | |
| NM_001349736.1:c.957C>T | NP_001336665.1:p.Leu319= | |
| NM_001288705.3:c.957C>T MANE Select | NP_001275634.1:p.Leu319= | |
| NM_001375320.1:c.957C>T | NP_001362249.1:p.Leu319= | |
| NM_001375321.1:c.513C>T | NP_001362250.1:p.Leu171= | |
| NR_164679.1:n.1013C>T | ||
| NM_001349736.2:c.957C>T | NP_001336665.1:p.Leu319= | |
| NM_005211.4:c.957C>T | NP_005202.2:p.Leu319= | |
| NR_109969.2:n.1084C>T |