Linked Data
dbSNP Id:
rs141866275
ExAC:
1:215901544 G / A
gnomAD v2:
1-215901544-G-A
gnomAD v4:
1-215728202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728202G>A , CM000663.2:g.215728202G>A | GRCh38 |
| NC_000001.10:g.215901544G>A , CM000663.1:g.215901544G>A | GRCh37 |
| NC_000001.9:g.213968167G>A | NCBI36 |
| NG_009497.1:g.700195C>T | |
| NG_009497.2:g.700247C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11894C>T MANE Select | ENSP00000305941.3:p.Pro3965Leu | |
| ENST00000674083.1:c.11894C>T | ENSP00000501296.1:p.Pro3965Leu | |
| ENST00000307340.7:c.11894C>T | ENSP00000305941.3:p.Pro3965Leu | |
| NM_206933.2:c.11894C>T | NP_996816.2:p.Pro3965Leu | |
| NM_206933.3:c.11894C>T | NP_996816.2:p.Pro3965Leu | |
| NM_206933.4:c.11894C>T MANE Select | NP_996816.3:p.Pro3965Leu |