Linked Data
ClinVar Variation Id:
261781
dbSNP Id:
rs115504901
ExAC:
2:166740469 A / C
gnomAD v2:
2-166740469-A-C
gnomAD v3:
2-165883959-A-C
gnomAD v4:
2-165883959-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165883959A>C , CM000664.2:g.165883959A>C | GRCh38 |
| NC_000002.11:g.166740469A>C , CM000664.1:g.166740469A>C | GRCh37 |
| NC_000002.10:g.166448715A>C | NCBI36 |
| NG_030345.1:g.74880T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3519T>G MANE Select | ENSP00000243344.7:p.Thr1173= | |
| ENST00000497425.2:n.628T>G | ||
| ENST00000652557.1:c.3519T>G | ENSP00000498617.1:p.Thr1173= | |
| ENST00000679356.1:c.3516T>G | ENSP00000506245.1:p.Thr1172= | |
| ENST00000679676.1:c.3408T>G | ENSP00000505492.1:p.Thr1136= | |
| ENST00000679799.1:c.3519T>G | ENSP00000505208.1:p.Thr1173= | |
| ENST00000679840.1:c.3519T>G | ENSP00000505248.1:p.Thr1173= | |
| ENST00000679931.1:c.*2561T>G | ENSP00000505632.1:n.*2561T>G | |
| ENST00000679967.1:c.3510T>G | ENSP00000506607.1:p.Thr1170= | |
| ENST00000680327.1:c.*2561T>G | ENSP00000506639.1:n.*2561T>G | |
| ENST00000680657.1:n.3630T>G | ||
| ENST00000680690.1:c.*2771T>G | ENSP00000506121.1:n.*2771T>G | |
| ENST00000680888.1:c.3519T>G | ENSP00000506276.1:p.Thr1173= | |
| ENST00000680925.1:n.1549T>G | ||
| ENST00000680947.1:c.*2791T>G | ENSP00000506496.1:n.*2791T>G | |
| ENST00000681024.1:c.3519T>G | ENSP00000506449.1:p.Thr1173= | |
| ENST00000681083.1:c.*3250T>G | ENSP00000506095.1:n.*3250T>G | |
| ENST00000681167.1:n.3393T>G | ||
| ENST00000681483.1:c.*329T>G | ENSP00000505499.1:n.*329T>G | |
| ENST00000681502.1:c.*6779T>G | ENSP00000505644.1:n.*6779T>G | |
| ENST00000681819.1:c.*329T>G | ENSP00000505673.1:n.*329T>G | |
| ENST00000681952.1:c.3519T>G | ENSP00000506400.1:p.Thr1173= | |
| ENST00000243344.7:c.3519T>G | ENSP00000243344.7:p.Thr1173= | |
| ENST00000392695.6:c.419T>G | ||
| NM_024753.4:c.3519T>G | NP_079029.3:p.Thr1173= | |
| XM_011511870.1:c.2952T>G | XP_011510172.1:p.Thr984= | |
| XM_011511871.1:c.2769T>G | XP_011510173.1:p.Thr923= | |
| XM_011511871.3:c.2769T>G | XP_011510173.1:p.Thr923= | |
| XM_011511872.2:c.*721T>G | XP_011510174.1:n.*721T>G | |
| XM_017004967.1:c.3519T>G | XP_016860456.1:p.Thr1173= | |
| XM_017004968.2:c.2865T>G | XP_016860457.1:p.Thr955= | |
| XM_017004969.1:c.2520T>G | XP_016860458.1:p.Thr840= | |
| NM_024753.5:c.3519T>G MANE Select | NP_079029.3:p.Thr1173= |