Linked Data
ClinVar Variation Id:
2040805
dbSNP Id:
rs61754186
ExAC:
2:24516579 G / A
gnomAD v2:
2-24516579-G-A
gnomAD v3:
2-24293710-G-A
gnomAD v4:
2-24293710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24293710G>A , CM000664.2:g.24293710G>A | GRCh38 |
| NC_000002.11:g.24516579G>A , CM000664.1:g.24516579G>A | GRCh37 |
| NC_000002.10:g.24370083G>A | NCBI36 |
| NG_029516.1:g.71819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355123.9:c.1701C>T MANE Select | ENSP00000347244.4:p.Asn567= | |
| ENST00000355123.8:c.1701C>T | ENSP00000347244.4:p.Asn567= | |
| ENST00000361999.7:c.1701C>T | ENSP00000354561.2:p.Asn567= | |
| ENST00000406921.7:c.1701C>T | ENSP00000384499.3:p.Asn567= | |
| ENST00000412011.5:c.1776C>T | ENSP00000391224.1:p.Asn592= | |
| ENST00000469848.1:n.114C>T | ||
| ENST00000622089.4:c.1731C>T | ENSP00000479408.1:p.Asn577= | |
| NM_006277.2:c.1701C>T | NP_006268.2:p.Asn567= | |
| NM_019595.3:c.1701C>T | NP_062541.3:p.Asn567= | |
| NM_147152.2:c.1701C>T | NP_671494.2:p.Asn567= | |
| NM_001348181.1:c.1659C>T | NP_001335110.1:p.Asn553= | |
| NM_001348182.1:c.1701C>T | NP_001335111.1:p.Asn567= | |
| NM_001348183.1:c.1701C>T | NP_001335112.1:p.Asn567= | |
| NM_001348184.1:c.1659C>T | NP_001335113.1:p.Asn553= | |
| NM_001348185.1:c.1701C>T | NP_001335114.1:p.Asn567= | |
| NM_001348186.1:c.1701C>T | NP_001335115.1:p.Asn567= | |
| XM_024452930.1:c.1701C>T | XP_024308698.1:p.Asn567= | |
| XM_024452931.1:c.1701C>T | XP_024308699.1:p.Asn567= | |
| XM_024452932.1:c.1659C>T | XP_024308700.1:p.Asn553= | |
| XM_024452933.1:c.1701C>T | XP_024308701.1:p.Asn567= | |
| XM_024452934.1:c.1701C>T | XP_024308702.1:p.Asn567= | |
| XM_024452935.1:c.1659C>T | XP_024308703.1:p.Asn553= | |
| XM_024452936.1:c.1659C>T | XP_024308704.1:p.Asn553= | |
| XR_002959302.1:n.1689C>T | ||
| NM_001348181.2:c.1659C>T | NP_001335110.1:p.Asn553= | |
| NM_001348182.2:c.1701C>T | NP_001335111.1:p.Asn567= | |
| NM_001348183.2:c.1701C>T | NP_001335112.1:p.Asn567= | |
| NM_001348184.2:c.1659C>T | NP_001335113.1:p.Asn553= | |
| NM_001348185.2:c.1701C>T | NP_001335114.1:p.Asn567= | |
| NM_001348186.2:c.1701C>T | NP_001335115.1:p.Asn567= | |
| NM_006277.3:c.1701C>T MANE Select | NP_006268.2:p.Asn567= | |
| NM_019595.4:c.1701C>T | NP_062541.3:p.Asn567= | |
| NM_147152.3:c.1701C>T | NP_671494.2:p.Asn567= |