Linked Data
dbSNP Id:
rs750049515
ExAC:
16:30767751 G / A
gnomAD v2:
16-30767751-G-A
gnomAD v4:
16-30756430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756430G>A , CM000678.2:g.30756430G>A | GRCh38 |
| NC_000016.9:g.30767751G>A , CM000678.1:g.30767751G>A | GRCh37 |
| NC_000016.8:g.30675252G>A | NCBI36 |
| NG_016616.1:g.13132G>A | |
| NG_016616.2:g.13132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.711G>A MANE Select | ENSP00000455607.1:p.Arg237= | |
| ENST00000328273.11:c.723G>A | ENSP00000329968.7:p.Arg241= | |
| ENST00000424889.7:c.711G>A | ENSP00000388571.3:p.Arg237= | |
| ENST00000563588.5:c.711G>A | ENSP00000455607.1:p.Arg237= | |
| ENST00000563913.5:n.1044G>A | ||
| ENST00000564838.5:n.931-160G>A | ||
| ENST00000565897.5:c.711G>A | ENSP00000457359.1:p.Arg237= | |
| ENST00000565924.5:c.711G>A | ENSP00000455091.1:p.Arg237= | |
| NM_000294.2:c.711G>A | NP_000285.1:p.Arg237= | |
| NM_001172432.1:c.711G>A | NP_001165903.1:p.Arg237= | |
| NM_000294.3:c.711G>A MANE Select | NP_000285.1:p.Arg237= | |
| NM_001172432.2:c.711G>A | NP_001165903.1:p.Arg237= |