Linked Data
ClinVar Variation Id:
294510
ClinVar RCV Id:
RCV000273876
RCV000308622
RCV000333684
RCV000367943
RCV000735110
RCV000972577
RCV002294234
dbSNP Id:
rs149474608
ExAC:
1:196709816 G / T
gnomAD v2:
1-196709816-G-T
gnomAD v3:
1-196740686-G-T
gnomAD v4:
1-196740686-G-T
PubMed:
PMID:14583443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196740686G>T , CM000663.2:g.196740686G>T | GRCh38 |
| NC_000001.10:g.196709816G>T , CM000663.1:g.196709816G>T | GRCh37 |
| NC_000001.9:g.194976439G>T | NCBI36 |
| NG_007259.1:g.93676G>T , LRG_47:g.93676G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470918.2:n.3116G>T | ||
| ENST00000695970.1:c.2783-1189G>T | ENSP00000512297.1:n.2783-1189G>T | |
| ENST00000695971.1:c.2829G>T | ENSP00000512298.1:p.Gln943His | |
| ENST00000695972.1:c.2255G>T | ENSP00000512299.1:p.Ser752Ile | |
| ENST00000695973.1:c.*1214G>T | ENSP00000512300.1:n.*1214G>T | |
| ENST00000695974.1:c.2673G>T | ENSP00000512301.1:p.Gln891His | |
| ENST00000695975.1:c.*977G>T | ENSP00000512302.1:n.*977G>T | |
| ENST00000695976.1:c.2661G>T | ENSP00000512303.1:p.Gln887His | |
| ENST00000695981.1:c.2850G>T | ENSP00000512306.1:p.Gln950His | |
| ENST00000695983.1:c.2850G>T | ENSP00000512308.1:p.Gln950His | |
| ENST00000695984.1:c.858G>T | ENSP00000512309.1:p.Gln286His | |
| ENST00000695986.1:c.*2501G>T | ENSP00000512311.1:n.*2501G>T | |
| ENST00000696025.1:n.2934G>T | ||
| ENST00000696026.1:c.*1132G>T | ENSP00000512335.1:n.*1132G>T | |
| ENST00000696027.1:c.2844G>T | ENSP00000512336.1:p.Gln948His | |
| ENST00000696028.1:c.2850G>T | ENSP00000512337.1:p.Gln950His | |
| ENST00000696029.1:c.2850G>T | ENSP00000512338.1:p.Gln950His | |
| ENST00000696031.1:c.*2368G>T | ENSP00000512340.1:n.*2368G>T | |
| ENST00000696032.1:c.2850G>T | ENSP00000512341.1:p.Gln950His | |
| ENST00000696033.1:c.1160-39111G>T | ENSP00000512342.1:n.1160-39111G>T | |
| ENST00000367429.9:c.2850G>T MANE Select | ENSP00000356399.4:p.Gln950His | |
| ENST00000367429.8:c.2850G>T | ENSP00000356399.4:p.Gln950His | |
| ENST00000466229.5:n.4866G>T | ||
| ENST00000470918.1:n.353G>T | ||
| NM_000186.3:c.2850G>T , LRG_47t1:c.2850G>T | NP_000177.2:p.Gln950His | |
| XR_001737134.2:n.3036G>T | ||
| NM_000186.4:c.2850G>T MANE Select | NP_000177.2:p.Gln950His |