Linked Data
dbSNP Id:
rs765769471
ExAC:
18:58038622 G / A
gnomAD v2:
18-58038622-G-A
gnomAD v4:
18-60371389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371389G>A , CM000680.2:g.60371389G>A | GRCh38 |
| NC_000018.9:g.58038622G>A , CM000680.1:g.58038622G>A | GRCh37 |
| NC_000018.8:g.56189602G>A | NCBI36 |
| NG_016441.1:g.6380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.961C>T MANE Select | ENSP00000299766.3:p.Pro321Ser | |
| ENST00000299766.4:c.961C>T | ENSP00000299766.3:p.Pro321Ser | |
| NM_005912.2:c.961C>T | NP_005903.2:p.Pro321Ser | |
| NM_005912.3:c.961C>T MANE Select | NP_005903.2:p.Pro321Ser |