Linked Data
ClinVar Variation Id:
235922
dbSNP Id:
rs752281590
ExAC:
3:4856205 G / A
gnomAD v2:
3-4856205-G-A
gnomAD v4:
3-4814521-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4814521G>A , CM000665.2:g.4814521G>A | GRCh38 |
| NC_000003.11:g.4856205G>A , CM000665.1:g.4856205G>A | GRCh37 |
| NC_000003.10:g.4831205G>A | NCBI36 |
| NG_016144.1:g.326174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.7671G>A | ENSP00000306253.9:n.7671G>A | |
| ENST00000354582.12:c.7636G>A | ENSP00000346595.8:p.Gly2546Arg | |
| ENST00000443694.5:c.7615G>A | ENSP00000401671.2:p.Gly2539Arg | |
| ENST00000354582.11:c.7636G>A | ENSP00000346595.8:p.Gly2546Arg | |
| ENST00000357086.10:c.7516G>A | ENSP00000349597.4:p.Gly2506Arg | |
| ENST00000443694.4:c.7615G>A | ENSP00000401671.2:p.Gly2539Arg | |
| ENST00000456211.8:c.7471G>A | ENSP00000397885.2:p.Gly2491Arg | |
| ENST00000463980.6:n.977G>A | ||
| ENST00000467545.6:n.917G>A | ||
| ENST00000493491.6:n.938G>A | ||
| ENST00000544951.6:c.1549G>A | ENSP00000440564.1:p.Gly517Arg | |
| ENST00000647708.1:c.3559G>A | ||
| ENST00000647717.1:n.5164G>A | ||
| ENST00000647997.1:n.680G>A | ||
| ENST00000648016.1:c.4028G>A | ||
| ENST00000648038.1:c.5422G>A | ENSP00000497872.1:p.Gly1808Arg | |
| ENST00000648208.1:n.671G>A | ||
| ENST00000648212.1:c.4601G>A | ||
| ENST00000648266.1:c.7633G>A | ENSP00000498014.1:p.Gly2545Arg | |
| ENST00000648309.1:c.7588G>A | ENSP00000497026.1:p.Gly2530Arg | |
| ENST00000648390.1:c.447-31618G>A | ||
| ENST00000648431.1:c.4839G>A | ||
| ENST00000648770.1:n.754G>A | ||
| ENST00000649015.2:c.7660G>A MANE Select | ENSP00000497605.1:p.Gly2554Arg | |
| ENST00000649144.1:n.2708G>A | ||
| ENST00000649314.1:n.788G>A | ||
| ENST00000649430.1:n.199G>A | ||
| ENST00000649694.1:n.5145G>A | ||
| ENST00000649767.1:n.992G>A | ||
| ENST00000650074.1:n.970G>A | ||
| ENST00000650139.1:n.2424G>A | ||
| ENST00000650294.1:c.7618G>A | ENSP00000498056.1:p.Gly2540Arg | |
| ENST00000650552.1:n.1086G>A | ||
| ENST00000302640.12:c.7615G>A | ENSP00000306253.8:p.Gly2539Arg | |
| ENST00000354582.10:c.7660G>A | ENSP00000346595.7:p.Gly2554Arg | |
| ENST00000357086.9:c.7516G>A | ENSP00000349597.4:p.Gly2506Arg | |
| ENST00000443694.3:c.7615G>A | ENSP00000401671.2:p.Gly2539Arg | |
| ENST00000456211.7:c.7471G>A | ENSP00000397885.2:p.Gly2491Arg | |
| ENST00000463980.5:n.962G>A | ||
| ENST00000472205.1:n.287G>A | ||
| ENST00000493491.5:n.938G>A | ||
| ENST00000544951.5:c.1549G>A | ENSP00000440564.1:p.Gly517Arg | |
| NM_001099952.2:c.7516G>A | NP_001093422.2:p.Gly2506Arg | |
| NM_001168272.1:c.7615G>A | NP_001161744.1:p.Gly2539Arg | |
| NM_002222.5:c.7471G>A | NP_002213.5:p.Gly2491Arg | |
| XM_005265109.2:c.7591G>A | XP_005265166.1:p.Gly2531Arg | |
| XM_005265110.2:c.7543G>A | XP_005265167.1:p.Gly2515Arg | |
| XM_006713131.2:c.7594G>A | XP_006713194.1:p.Gly2532Arg | |
| XM_011533681.1:c.7663G>A | XP_011531983.1:p.Gly2555Arg | |
| XM_011533682.1:c.7663G>A | XP_011531984.1:p.Gly2555Arg | |
| XM_011533683.1:c.7660G>A | XP_011531985.1:p.Gly2554Arg | |
| XM_011533684.1:c.7636G>A | XP_011531986.1:p.Gly2546Arg | |
| XM_011533685.1:c.7630G>A | XP_011531987.1:p.Gly2544Arg | |
| XM_011533686.1:c.7627G>A | XP_011531988.1:p.Gly2543Arg | |
| XM_011533687.1:c.7618G>A | XP_011531989.1:p.Gly2540Arg | |
| XM_011533688.1:c.7591G>A | XP_011531990.1:p.Gly2531Arg | |
| XM_011533689.1:c.7552G>A | XP_011531991.1:p.Gly2518Arg | |
| XM_011533690.1:c.7540G>A | XP_011531992.1:p.Gly2514Arg | |
| XM_005265109.3:c.7591G>A | XP_005265166.1:p.Gly2531Arg | |
| XM_005265110.3:c.7543G>A | XP_005265167.1:p.Gly2515Arg | |
| XM_006713131.3:c.7594G>A | XP_006713194.1:p.Gly2532Arg | |
| XM_011533682.3:c.7663G>A | XP_011531984.1:p.Gly2555Arg | |
| XM_011533683.3:c.7660G>A | XP_011531985.1:p.Gly2554Arg | |
| XM_011533684.2:c.7636G>A | XP_011531986.1:p.Gly2546Arg | |
| XM_011533685.2:c.7630G>A | XP_011531987.1:p.Gly2544Arg | |
| XM_011533686.2:c.7627G>A | XP_011531988.1:p.Gly2543Arg | |
| XM_011533687.2:c.7618G>A | XP_011531989.1:p.Gly2540Arg | |
| XM_011533688.2:c.7591G>A | XP_011531990.1:p.Gly2531Arg | |
| XM_011533690.2:c.7540G>A | XP_011531992.1:p.Gly2514Arg | |
| XM_017006357.2:c.7537G>A | XP_016861846.1:p.Gly2513Arg | |
| NM_001099952.3:c.7516G>A | NP_001093422.2:p.Gly2506Arg | |
| NM_002222.6:c.7471G>A | NP_002213.5:p.Gly2491Arg | |
| NM_001099952.4:c.7516G>A | NP_001093422.2:p.Gly2506Arg | |
| NM_001168272.2:c.7615G>A | NP_001161744.1:p.Gly2539Arg | |
| NM_001378452.1:c.7660G>A MANE Select | NP_001365381.1:p.Gly2554Arg | |
| NM_002222.7:c.7471G>A | NP_002213.5:p.Gly2491Arg |