Linked Data
ClinVar Variation Id:
68212
dbSNP Id:
rs179363894
ExAC:
16:88709978 G / A
gnomAD v2:
16-88709978-G-A
gnomAD v3:
16-88643570-G-A
gnomAD v4:
16-88643570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88643570G>A , CM000678.2:g.88643570G>A | GRCh38 |
| NC_000016.9:g.88709978G>A , CM000678.1:g.88709978G>A | GRCh37 |
| NC_000016.8:g.87237479G>A | NCBI36 |
| NG_007291.1:g.12480C>T , LRG_52:g.12480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000565588.6:c.381C>T | ENSP00000455537.2:p.Gly127= | |
| ENST00000696156.1:c.287C>T | ENSP00000512446.1:p.Ala96Val | |
| ENST00000696157.1:c.*588C>T | ENSP00000512447.1:n.*588C>T | |
| ENST00000696158.1:c.*625C>T | ENSP00000512448.1:n.*625C>T | |
| ENST00000696159.1:c.*294C>T | ENSP00000512449.1:n.*294C>T | |
| ENST00000696160.1:c.398C>T | ENSP00000512450.1:p.Ala133Val | |
| ENST00000696161.1:c.501C>T | ENSP00000512451.1:p.Gly167= | |
| ENST00000696162.1:c.*1090C>T | ENSP00000512452.1:n.*1090C>T | |
| ENST00000696163.1:c.320C>T | ENSP00000512453.1:p.Ala107Val | |
| ENST00000261623.8:c.371C>T MANE Select | ENSP00000261623.3:p.Ala124Val | |
| ENST00000261623.7:c.371C>T | ENSP00000261623.3:p.Ala124Val | |
| ENST00000565588.5:c.165C>T | ||
| ENST00000566229.1:c.360C>T | ENSP00000457060.1:p.Gly120= | |
| ENST00000566534.5:n.950C>T | ||
| NM_000101.3:c.371C>T | NP_000092.2:p.Ala124Val | |
| NM_000101.4:c.371C>T MANE Select | NP_000092.2:p.Ala124Val |