Linked Data
dbSNP Id:
rs770065010
ExAC:
1:215848667 C / A
gnomAD v2:
1-215848667-C-A
gnomAD v4:
1-215675325-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675325C>A , CM000663.2:g.215675325C>A | GRCh38 |
| NC_000001.10:g.215848667C>A , CM000663.1:g.215848667C>A | GRCh37 |
| NC_000001.9:g.213915290C>A | NCBI36 |
| NG_009497.1:g.753072G>T | |
| NG_009497.2:g.753124G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12586G>T MANE Select | ENSP00000305941.3:p.Glu4196Ter | |
| ENST00000674083.1:c.12586G>T | ENSP00000501296.1:p.Glu4196Ter | |
| ENST00000307340.7:c.12586G>T | ENSP00000305941.3:p.Glu4196Ter | |
| NM_206933.2:c.12586G>T | NP_996816.2:p.Glu4196Ter | |
| NM_206933.3:c.12586G>T | NP_996816.2:p.Glu4196Ter | |
| NM_206933.4:c.12586G>T MANE Select | NP_996816.3:p.Glu4196Ter |