Linked Data
ClinVar Variation Id:
1080621
ClinVar RCV Id:
RCV001396336
dbSNP Id:
rs1218907111
gnomAD v3:
1-215766784-G-T
gnomAD v4:
1-215766784-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766784G>T , CM000663.2:g.215766784G>T | GRCh38 |
| NC_000001.10:g.215940126G>T , CM000663.1:g.215940126G>T | GRCh37 |
| NC_000001.9:g.214006749G>T | NCBI36 |
| NG_009497.1:g.661613C>A | |
| NG_009497.2:g.661665C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10944C>A MANE Select | ENSP00000305941.3:p.Leu3648= | |
| ENST00000674083.1:c.10944C>A | ENSP00000501296.1:p.Leu3648= | |
| ENST00000307340.7:c.10944C>A | ENSP00000305941.3:p.Leu3648= | |
| NM_206933.2:c.10944C>A | NP_996816.2:p.Leu3648= | |
| NM_206933.3:c.10944C>A | NP_996816.2:p.Leu3648= | |
| NM_206933.4:c.10944C>A MANE Select | NP_996816.3:p.Leu3648= |