Linked Data
ClinVar Variation Id:
2392710
ClinVar RCV Id:
RCV004230153
dbSNP Id:
rs370573269
ExAC:
8:135545112 G / C
gnomAD v2:
8-135545112-G-C
gnomAD v3:
8-134532869-G-C
gnomAD v4:
8-134532869-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134532869G>C , CM000670.2:g.134532869G>C | GRCh38 |
| NC_000008.10:g.135545112G>C , CM000670.1:g.135545112G>C | GRCh37 |
| NC_000008.9:g.135614294G>C | NCBI36 |
| NG_016356.1:g.185181C>G | |
| NG_016356.2:g.185181C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.3080C>G MANE Select | ENSP00000367069.3:p.Thr1027Ser | |
| ENST00000377838.7:c.3080C>G | ENSP00000367069.3:p.Thr1027Ser | |
| ENST00000429442.6:c.3044C>G | ENSP00000394501.2:p.Thr1015Ser | |
| ENST00000517307.5:n.684C>G | ||
| ENST00000518408.5:n.443C>G | ||
| ENST00000520214.5:c.3044C>G | ENSP00000428483.1:p.Thr1015Ser | |
| ENST00000520356.5:c.3044C>G | ENSP00000427879.1:p.Thr1015Ser | |
| ENST00000520727.5:c.3044C>G | ENSP00000427831.1:p.Thr1015Ser | |
| ENST00000523243.5:c.*249C>G | ENSP00000429930.1:n.*249C>G | |
| ENST00000523399.5:c.2894C>G | ENSP00000429091.1:p.Thr965Ser | |
| ENST00000523924.5:c.*3062C>G | ENSP00000429050.1:n.*3062C>G | |
| NM_001029939.3:c.3044C>G | NP_001025110.2:p.Thr1015Ser | |
| NM_001167583.2:c.3044C>G | NP_001161055.1:p.Thr1015Ser | |
| NM_001174157.1:c.2894C>G | NP_001167628.1:p.Thr965Ser | |
| NM_001174158.1:c.3044C>G | NP_001167629.1:p.Thr1015Ser | |
| NM_001289394.1:c.3044C>G | NP_001276323.1:p.Thr1015Ser | |
| NM_020863.3:c.3080C>G | NP_065914.2:p.Thr1027Ser | |
| NR_110323.1:n.3432C>G | ||
| XM_011517203.1:c.3044C>G | XP_011515505.1:p.Thr1015Ser | |
| XM_011517204.1:c.2894C>G | XP_011515506.1:p.Thr965Ser | |
| XM_011517206.1:c.3044C>G | XP_011515508.1:p.Thr1015Ser | |
| XR_928343.1:n.3061C>G | ||
| XM_011517204.2:c.2894C>G | XP_011515506.1:p.Thr965Ser | |
| XM_011517206.2:c.3044C>G | XP_011515508.1:p.Thr1015Ser | |
| XM_017013716.1:c.3044C>G | XP_016869205.1:p.Thr1015Ser | |
| XR_001745569.1:n.2972C>G | ||
| XR_928343.2:n.3061C>G | ||
| NM_020863.4:c.3080C>G MANE Select | NP_065914.2:p.Thr1027Ser | |
| NM_001029939.4:c.3044C>G | NP_001025110.2:p.Thr1015Ser | |
| NM_001167583.3:c.3044C>G | NP_001161055.1:p.Thr1015Ser | |
| NM_001174157.2:c.2894C>G | NP_001167628.1:p.Thr965Ser | |
| NM_001174158.2:c.3044C>G | NP_001167629.1:p.Thr1015Ser | |
| NM_001289394.2:c.3044C>G | NP_001276323.1:p.Thr1015Ser | |
| NR_110323.2:n.3414C>G |