Linked Data
dbSNP Id:
rs753097616
ExAC:
9:101304303 G / A
gnomAD v2:
9-101304303-G-A
gnomAD v4:
9-98542021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542021G>A , CM000671.2:g.98542021G>A | GRCh38 |
| NC_000009.11:g.101304303G>A , CM000671.1:g.101304303G>A | GRCh37 |
| NC_000009.10:g.100344124G>A | NCBI36 |
| NG_016426.1:g.172177C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.482C>T MANE Select | ENSP00000259455.2:p.Pro161Leu | |
| ENST00000637410.1:n.260C>T | ||
| ENST00000637717.1:c.98C>T | ENSP00000490789.1:p.Pro33Leu | |
| ENST00000638001.1:n.92C>T | ||
| ENST00000259455.3:c.482C>T | ENSP00000259455.2:p.Pro161Leu | |
| ENST00000477471.1:n.269C>T | ||
| ENST00000634227.1:n.256C>T | ||
| NM_005458.7:c.482C>T | NP_005449.5:p.Pro161Leu | |
| XM_017015331.2:c.188C>T | XP_016870820.1:p.Pro63Leu | |
| NM_005458.8:c.482C>T MANE Select | NP_005449.5:p.Pro161Leu |