Linked Data
ClinVar Variation Id:
3107184
ClinVar RCV Id:
RCV004404538
dbSNP Id:
rs200384115
ExAC:
16:30999136 C / T
gnomAD v2:
16-30999136-C-T
gnomAD v3:
16-30987815-C-T
gnomAD v4:
16-30987815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30987815C>T , CM000678.2:g.30987815C>T | GRCh38 |
| NC_000016.9:g.30999136C>T , CM000678.1:g.30999136C>T | GRCh37 |
| NC_000016.8:g.30906637C>T | NCBI36 |
| NG_012346.1:g.7618C>T | |
| NG_041829.1:g.27694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.742C>T MANE Select | ENSP00000297679.5:p.Arg248Trp | |
| ENST00000262520.10:c.579C>T | ENSP00000262520.6:p.Ser193= | |
| ENST00000297679.9:c.742C>T | ENSP00000297679.5:p.Arg248Trp | |
| NM_001142777.1:c.579C>T | NP_001136249.1:p.Ser193= | |
| NM_001142778.1:c.579C>T | NP_001136250.1:p.Ser193= | |
| NM_025193.3:c.742C>T | NP_079469.2:p.Arg248Trp | |
| XM_005255601.3:c.742C>T | XP_005255658.2:p.Arg248Trp | |
| XM_011545960.1:c.742C>T | XP_011544262.1:p.Arg248Trp | |
| XM_011545961.1:c.742C>T | XP_011544263.1:p.Arg248Trp | |
| XM_011545962.1:c.579C>T | XP_011544264.1:p.Ser193= | |
| XM_011545960.2:c.742C>T | XP_011544262.1:p.Arg248Trp | |
| XM_011545962.2:c.579C>T | XP_011544264.1:p.Ser193= | |
| XM_017023732.1:c.579C>T | XP_016879221.1:p.Ser193= | |
| NM_025193.4:c.742C>T MANE Select | NP_079469.2:p.Arg248Trp | |
| NM_001142777.2:c.579C>T | NP_001136249.1:p.Ser193= | |
| NM_001142778.2:c.579C>T | NP_001136250.1:p.Ser193= |