Linked Data
ClinVar Variation Id:
522804
ClinVar RCV Id:
RCV000625971
dbSNP Id:
rs1554888939
gnomAD v4:
9-137798823-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137798823G>T , CM000671.2:g.137798823G>T | GRCh38 |
| NC_000009.11:g.140693275G>T , CM000671.1:g.140693275G>T | GRCh37 |
| NC_000009.10:g.139813096G>T | NCBI36 |
| NG_011776.1:g.184832G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2516G>T MANE Select | ENSP00000417980.1:p.Gly839Val | |
| ENST00000636027.1:c.2402G>T | ENSP00000489961.1:p.Gly801Val | |
| ENST00000637161.1:c.2423G>T | ENSP00000490328.1:p.Gly808Val | |
| ENST00000637261.1:c.2556G>T | ENSP00000490815.1:n.2556G>T | |
| ENST00000637277.1:n.82G>T | ||
| ENST00000637891.1:c.410G>T | ENSP00000490907.1:p.Gly137Val | |
| ENST00000637949.1:c.194G>T | ENSP00000489786.1:p.Gly65Val | |
| ENST00000460843.5:c.2516G>T | ENSP00000417980.1:p.Gly839Val | |
| ENST00000462942.3:c.1373G>T | ENSP00000436107.1:p.Gly458Val | |
| ENST00000482340.5:c.86G>T | ENSP00000486748.1:p.Gly29Val | |
| ENST00000486164.5:c.94G>T | ||
| ENST00000493484.5:c.86G>T | ENSP00000486503.1:p.Gly29Val | |
| NM_024757.4:c.2516G>T | NP_079033.4:p.Gly839Val | |
| XM_005266105.3:c.2507G>T | XP_005266162.1:p.Gly836Val | |
| XM_005266110.1:c.2423G>T | XP_005266167.1:p.Gly808Val | |
| XM_006717288.2:c.2498G>T | XP_006717351.1:p.Gly833Val | |
| XM_011519021.1:c.2525G>T | XP_011517323.1:p.Gly842Val | |
| XM_011519022.1:c.2522G>T | XP_011517324.1:p.Gly841Val | |
| XM_011519023.1:c.2504G>T | XP_011517325.1:p.Gly835Val | |
| XM_011519024.1:c.2447G>T | XP_011517326.1:p.Gly816Val | |
| XM_011519025.1:c.2423G>T | XP_011517327.1:p.Gly808Val | |
| XM_011519026.1:c.2381G>T | XP_011517328.1:p.Gly794Val | |
| XM_011519027.1:c.2525G>T | XP_011517329.1:p.Gly842Val | |
| XM_011519029.1:c.947G>T | XP_011517331.1:p.Gly316Val | |
| XM_011519030.1:c.299G>T | XP_011517332.1:p.Gly100Val | |
| XM_011519031.1:c.86G>T | XP_011517333.1:p.Gly29Val | |
| XM_011519032.1:c.86G>T | XP_011517334.1:p.Gly29Val | |
| XM_011519033.1:c.2360G>T | XP_011517335.1:p.Gly787Val | |
| NM_001354263.1:c.2495G>T | NP_001341192.1:p.Gly832Val | |
| XM_005266105.5:c.2507G>T | XP_005266162.1:p.Gly836Val | |
| XM_011519021.3:c.2525G>T | XP_011517323.1:p.Gly842Val | |
| XM_011519022.3:c.2522G>T | XP_011517324.1:p.Gly841Val | |
| XM_011519023.3:c.2504G>T | XP_011517325.1:p.Gly835Val | |
| XM_011519029.3:c.947G>T | XP_011517331.1:p.Gly316Val | |
| XM_011519030.3:c.299G>T | XP_011517332.1:p.Gly100Val | |
| XM_017015134.1:c.2501G>T | XP_016870623.1:p.Gly834Val | |
| XM_017015136.2:c.2417G>T | XP_016870625.1:p.Gly806Val | |
| XM_017015137.1:c.2402G>T | XP_016870626.1:p.Gly801Val | |
| XM_017015138.1:c.2402G>T | XP_016870627.1:p.Gly801Val | |
| XM_024447674.1:c.2345G>T | XP_024303442.1:p.Gly782Val | |
| XM_024447675.1:c.2279G>T | XP_024303443.1:p.Gly760Val | |
| XM_024447676.1:c.1640G>T | XP_024303444.1:p.Gly547Val | |
| XM_024447677.1:c.1640G>T | XP_024303445.1:p.Gly547Val | |
| XM_024447678.1:c.2423G>T | XP_024303446.1:p.Gly808Val | |
| XM_024447680.1:c.2258G>T | XP_024303448.1:p.Gly753Val | |
| NM_024757.5:c.2516G>T MANE Select | NP_079033.4:p.Gly839Val | |
| NM_001354263.2:c.2495G>T | NP_001341192.1:p.Gly832Val |