Linked Data
ClinVar Variation Id:
3185897
ClinVar RCV Id:
RCV004477226
dbSNP Id:
rs752586581
ExAC:
11:62445993 G / C
gnomAD v2:
11-62445993-G-C
gnomAD v4:
11-62678521-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62678521G>C , CM000673.2:g.62678521G>C | GRCh38 |
| NC_000011.9:g.62445993G>C , CM000673.1:g.62445993G>C | GRCh37 |
| NC_000011.8:g.62202569G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301935.10:c.194C>G MANE Select | ENSP00000303991.5:p.Thr65Ser | |
| ENST00000294119.6:c.194C>G | ENSP00000294119.2:p.Thr65Ser | |
| ENST00000301935.9:c.194C>G | ENSP00000303991.5:p.Thr65Ser | |
| ENST00000436354.2:n.366C>G | ||
| ENST00000524762.5:n.351C>G | ||
| ENST00000525004.5:n.17C>G | ||
| ENST00000525717.5:n.338C>G | ||
| ENST00000526919.5:n.281C>G | ||
| ENST00000527421.5:n.457C>G | ||
| ENST00000528907.5:n.344C>G | ||
| ENST00000529640.5:c.194C>G | ENSP00000435964.1:p.Thr65Ser | |
| ENST00000531056.5:n.348C>G | ||
| ENST00000531625.1:n.465C>G | ||
| ENST00000532904.5:n.450C>G | ||
| ENST00000533476.5:n.465C>G | ||
| ENST00000533908.5:n.329C>G | ||
| ENST00000534176.1:c.194C>G | ENSP00000435625.1:p.Thr65Ser | |
| ENST00000616865.4:c.113+169C>G | ENSP00000478250.1:n.113+169C>G | |
| NM_001286077.1:c.194C>G | NP_001273006.1:p.Thr65Ser | |
| NM_001286078.1:c.113+169C>G | NP_001273007.1:n.113+169C>G | |
| NM_015853.4:c.194C>G | NP_056937.2:p.Thr65Ser | |
| XM_005274033.3:c.194C>G | XP_005274090.1:p.Thr65Ser | |
| XM_011545090.1:c.194C>G | XP_011543392.1:p.Thr65Ser | |
| XM_005274033.4:c.194C>G | XP_005274090.1:p.Thr65Ser | |
| XM_017017874.1:c.194C>G | XP_016873363.1:p.Thr65Ser | |
| NM_001286077.2:c.194C>G MANE Select | NP_001273006.1:p.Thr65Ser | |
| NM_015853.5:c.194C>G | NP_056937.2:p.Thr65Ser | |
| NM_001286078.2:c.113+169C>G | NP_001273007.1:n.113+169C>G |