Linked Data
dbSNP Id:
rs540137383
ExAC:
10:82034296 G / T
gnomAD v2:
10-82034296-G-T
gnomAD v4:
10-80274540-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274540G>T , CM000672.2:g.80274540G>T | GRCh38 |
| NC_000010.10:g.82034296G>T , CM000672.1:g.82034296G>T | GRCh37 |
| NC_000010.9:g.82024276G>T | NCBI36 |
| NG_008083.1:g.20139C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1065C>A MANE Select | ENSP00000361287.3:p.Leu355= | |
| ENST00000372213.7:c.1065C>A | ENSP00000361287.3:p.Leu355= | |
| ENST00000480845.1:n.297C>A | ||
| ENST00000485270.5:n.577C>A | ||
| NM_000429.2:c.1065C>A | NP_000420.1:p.Leu355= | |
| XM_005269842.3:c.1065C>A | XP_005269899.1:p.Leu355= | |
| XM_005269843.3:c.942C>A | XP_005269900.1:p.Leu314= | |
| NM_000429.3:c.1065C>A MANE Select | NP_000420.1:p.Leu355= |