Linked Data
ClinVar Variation Id:
243076
ClinVar RCV Id:
RCV000235044
dbSNP Id:
rs869312685
PubMed:
PMID:26257172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4815135G>C , CM000665.2:g.4815135G>C | GRCh38 |
| NC_000003.11:g.4856819G>C , CM000665.1:g.4856819G>C | GRCh37 |
| NC_000003.10:g.4831819G>C | NCBI36 |
| NG_016144.1:g.326788G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302640.13:c.7795G>C | ENSP00000306253.9:n.7795G>C | |
| ENST00000354582.12:c.7760G>C | ENSP00000346595.8:p.Gly2587Ala | |
| ENST00000443694.5:c.7739G>C | ENSP00000401671.2:p.Gly2580Ala | |
| ENST00000354582.11:c.7760G>C | ENSP00000346595.8:p.Gly2587Ala | |
| ENST00000357086.10:c.7640G>C | ENSP00000349597.4:p.Gly2547Ala | |
| ENST00000443694.4:c.7739G>C | ENSP00000401671.2:p.Gly2580Ala | |
| ENST00000456211.8:c.7595G>C | ENSP00000397885.2:p.Gly2532Ala | |
| ENST00000463980.6:n.1101G>C | ||
| ENST00000467545.6:n.1041G>C | ||
| ENST00000478515.2:c.118G>C | ||
| ENST00000493491.6:n.1062G>C | ||
| ENST00000544951.6:c.1673G>C | ENSP00000440564.1:p.Gly558Ala | |
| ENST00000647685.1:c.35G>C | ENSP00000497835.1:p.Gly12Ala | |
| ENST00000647708.1:c.3683G>C | ||
| ENST00000647717.1:n.5288G>C | ||
| ENST00000647997.1:n.804G>C | ||
| ENST00000648016.1:c.4152G>C | ||
| ENST00000648038.1:c.5546G>C | ENSP00000497872.1:p.Gly1849Ala | |
| ENST00000648208.1:n.795G>C | ||
| ENST00000648212.1:c.4725G>C | ||
| ENST00000648266.1:c.7757G>C | ENSP00000498014.1:p.Gly2586Ala | |
| ENST00000648309.1:c.7712G>C | ENSP00000497026.1:p.Gly2571Ala | |
| ENST00000648390.1:c.447-31004G>C | ||
| ENST00000648431.1:c.4963G>C | ||
| ENST00000648770.1:n.878G>C | ||
| ENST00000649015.2:c.7784G>C MANE Select | ENSP00000497605.1:p.Gly2595Ala | |
| ENST00000649139.1:c.35G>C | ENSP00000497226.1:p.Gly12Ala | |
| ENST00000649144.1:n.2832G>C | ||
| ENST00000649314.1:n.912G>C | ||
| ENST00000649430.1:n.323G>C | ||
| ENST00000649694.1:n.5269G>C | ||
| ENST00000649767.1:n.1116G>C | ||
| ENST00000649908.1:c.35G>C | ENSP00000497614.1:p.Gly12Ala | |
| ENST00000650074.1:n.1094G>C | ||
| ENST00000650139.1:n.2548G>C | ||
| ENST00000650294.1:c.7742G>C | ENSP00000498056.1:p.Gly2581Ala | |
| ENST00000650552.1:n.1210G>C | ||
| ENST00000302640.12:c.7739G>C | ENSP00000306253.8:p.Gly2580Ala | |
| ENST00000354582.10:c.7784G>C | ENSP00000346595.7:p.Gly2595Ala | |
| ENST00000357086.9:c.7640G>C | ENSP00000349597.4:p.Gly2547Ala | |
| ENST00000443694.3:c.7739G>C | ENSP00000401671.2:p.Gly2580Ala | |
| ENST00000456211.7:c.7595G>C | ENSP00000397885.2:p.Gly2532Ala | |
| ENST00000463980.5:n.1086G>C | ||
| ENST00000472205.1:n.411G>C | ||
| ENST00000478515.1:n.491G>C | ||
| ENST00000493491.5:n.1062G>C | ||
| ENST00000544951.5:c.1673G>C | ENSP00000440564.1:p.Gly558Ala | |
| NM_001099952.2:c.7640G>C | NP_001093422.2:p.Gly2547Ala | |
| NM_001168272.1:c.7739G>C | NP_001161744.1:p.Gly2580Ala | |
| NM_002222.5:c.7595G>C | NP_002213.5:p.Gly2532Ala | |
| XM_005265109.2:c.7715G>C | XP_005265166.1:p.Gly2572Ala | |
| XM_005265110.2:c.7667G>C | XP_005265167.1:p.Gly2556Ala | |
| XM_006713131.2:c.7718G>C | XP_006713194.1:p.Gly2573Ala | |
| XM_011533681.1:c.7787G>C | XP_011531983.1:p.Gly2596Ala | |
| XM_011533682.1:c.7787G>C | XP_011531984.1:p.Gly2596Ala | |
| XM_011533683.1:c.7784G>C | XP_011531985.1:p.Gly2595Ala | |
| XM_011533684.1:c.7760G>C | XP_011531986.1:p.Gly2587Ala | |
| XM_011533685.1:c.7754G>C | XP_011531987.1:p.Gly2585Ala | |
| XM_011533686.1:c.7751G>C | XP_011531988.1:p.Gly2584Ala | |
| XM_011533687.1:c.7742G>C | XP_011531989.1:p.Gly2581Ala | |
| XM_011533688.1:c.7715G>C | XP_011531990.1:p.Gly2572Ala | |
| XM_011533689.1:c.7676G>C | XP_011531991.1:p.Gly2559Ala | |
| XM_011533690.1:c.7664G>C | XP_011531992.1:p.Gly2555Ala | |
| XM_005265109.3:c.7715G>C | XP_005265166.1:p.Gly2572Ala | |
| XM_005265110.3:c.7667G>C | XP_005265167.1:p.Gly2556Ala | |
| XM_006713131.3:c.7718G>C | XP_006713194.1:p.Gly2573Ala | |
| XM_011533682.3:c.7787G>C | XP_011531984.1:p.Gly2596Ala | |
| XM_011533683.3:c.7784G>C | XP_011531985.1:p.Gly2595Ala | |
| XM_011533684.2:c.7760G>C | XP_011531986.1:p.Gly2587Ala | |
| XM_011533685.2:c.7754G>C | XP_011531987.1:p.Gly2585Ala | |
| XM_011533686.2:c.7751G>C | XP_011531988.1:p.Gly2584Ala | |
| XM_011533687.2:c.7742G>C | XP_011531989.1:p.Gly2581Ala | |
| XM_011533688.2:c.7715G>C | XP_011531990.1:p.Gly2572Ala | |
| XM_011533690.2:c.7664G>C | XP_011531992.1:p.Gly2555Ala | |
| XM_017006357.2:c.7661G>C | XP_016861846.1:p.Gly2554Ala | |
| NM_001099952.3:c.7640G>C | NP_001093422.2:p.Gly2547Ala | |
| NM_002222.6:c.7595G>C | NP_002213.5:p.Gly2532Ala | |
| NM_001099952.4:c.7640G>C | NP_001093422.2:p.Gly2547Ala | |
| NM_001168272.2:c.7739G>C | NP_001161744.1:p.Gly2580Ala | |
| NM_001378452.1:c.7784G>C MANE Select | NP_001365381.1:p.Gly2595Ala | |
| NM_002222.7:c.7595G>C | NP_002213.5:p.Gly2532Ala |