Linked Data
ClinVar Variation Id:
229618
dbSNP Id:
rs147304271
ExAC:
1:215848693 C / A
gnomAD v2:
1-215848693-C-A
gnomAD v4:
1-215675351-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675351C>A , CM000663.2:g.215675351C>A | GRCh38 |
| NC_000001.10:g.215848693C>A , CM000663.1:g.215848693C>A | GRCh37 |
| NC_000001.9:g.213915316C>A | NCBI36 |
| NG_009497.1:g.753046G>T | |
| NG_009497.2:g.753098G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12560G>T MANE Select | ENSP00000305941.3:p.Arg4187Leu | |
| ENST00000674083.1:c.12560G>T | ENSP00000501296.1:p.Arg4187Leu | |
| ENST00000307340.7:c.12560G>T | ENSP00000305941.3:p.Arg4187Leu | |
| NM_206933.2:c.12560G>T | NP_996816.2:p.Arg4187Leu | |
| NM_206933.3:c.12560G>T | NP_996816.2:p.Arg4187Leu | |
| NM_206933.4:c.12560G>T MANE Select | NP_996816.3:p.Arg4187Leu |