Linked Data
dbSNP Id:
rs756316870
ExAC:
20:44576375 G / T
gnomAD v2:
20-44576375-G-T
gnomAD v3:
20-45947736-G-T
gnomAD v4:
20-45947736-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947736G>T , CM000682.2:g.45947736G>T | GRCh38 |
| NC_000020.10:g.44576375G>T , CM000682.1:g.44576375G>T | GRCh37 |
| NC_000020.9:g.44009782G>T | NCBI36 |
| NG_029772.1:g.29459C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.2096G>T MANE Select | ENSP00000361486.3:p.Arg699Leu | |
| ENST00000372409.7:c.2096G>T | ENSP00000361486.3:p.Arg699Leu | |
| ENST00000479348.2:c.1037G>T | ||
| NM_022104.3:c.2096G>T | NP_071387.1:p.Arg699Leu | |
| XM_011528980.1:c.2096G>T | XP_011527282.1:p.Arg699Leu | |
| XM_011528981.1:c.2096G>T | XP_011527283.1:p.Arg699Leu | |
| XM_011528982.1:c.1052G>T | XP_011527284.1:p.Arg351Leu | |
| XM_011528980.3:c.2096G>T | XP_011527282.1:p.Arg699Leu | |
| XM_011528981.3:c.2096G>T | XP_011527283.1:p.Arg699Leu | |
| XM_017028013.2:c.2096G>T | XP_016883502.1:p.Arg699Leu | |
| XM_017028014.2:c.1052G>T | XP_016883503.1:p.Arg351Leu | |
| NM_022104.4:c.2096G>T MANE Select | NP_071387.1:p.Arg699Leu |