Linked Data
ClinVar Variation Id:
377592
dbSNP Id:
rs1057520255
gnomAD v2:
17-59886110-G-T
gnomAD v4:
17-61808749-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61808749G>T , CM000679.2:g.61808749G>T | GRCh38 |
| NC_000017.10:g.59886110G>T , CM000679.1:g.59886110G>T | GRCh37 |
| NC_000017.9:g.57240892G>T | NCBI36 |
| NG_007409.2:g.59811C>A , LRG_300:g.59811C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.129C>A | ENSP00000463827.2:p.Gly43= | |
| ENST00000584322.2:c.636C>A | ENSP00000463272.2:p.Gly212= | |
| ENST00000682066.1:c.129C>A | ENSP00000507191.1:p.Gly43= | |
| ENST00000682453.1:c.636C>A | ENSP00000506943.1:p.Gly212= | |
| ENST00000682477.1:c.636C>A | ENSP00000507075.1:p.Gly212= | |
| ENST00000682589.1:n.2377C>A | ||
| ENST00000682611.1:c.129C>A | ENSP00000508326.1:p.Gly43= | |
| ENST00000682755.1:c.636C>A | ENSP00000507660.1:p.Gly212= | |
| ENST00000682989.1:c.636C>A | ENSP00000507786.1:p.Gly212= | |
| ENST00000683039.1:c.636C>A | ENSP00000508303.1:p.Gly212= | |
| ENST00000683235.1:c.636C>A | ENSP00000507646.1:p.Gly212= | |
| ENST00000683381.1:c.636C>A | ENSP00000508184.1:p.Gly212= | |
| ENST00000683692.1:c.129C>A | ENSP00000507964.1:p.Gly43= | |
| ENST00000684584.1:c.129C>A | ENSP00000508044.1:p.Gly43= | |
| ENST00000259008.7:c.636C>A MANE Select | ENSP00000259008.2:p.Gly212= | |
| ENST00000259008.6:c.636C>A | ENSP00000259008.2:p.Gly212= | |
| ENST00000577598.5:c.636C>A | ENSP00000464654.1:p.Gly212= | |
| NM_032043.2:c.636C>A , LRG_300t1:c.636C>A | NP_114432.2:p.Gly212= | |
| XM_011525332.1:c.636C>A | XP_011523634.1:p.Gly212= | |
| XM_011525333.1:c.636C>A | XP_011523635.1:p.Gly212= | |
| XM_011525334.1:c.636C>A | XP_011523636.1:p.Gly212= | |
| XM_011525335.1:c.636C>A | XP_011523637.1:p.Gly212= | |
| XM_011525336.1:c.636C>A | XP_011523638.1:p.Gly212= | |
| XM_011525337.1:c.636C>A | XP_011523639.1:p.Gly212= | |
| XM_011525338.1:c.153C>A | XP_011523640.1:p.Gly51= | |
| XM_011525339.1:c.636C>A | XP_011523641.1:p.Gly212= | |
| XM_011525340.1:c.636C>A | XP_011523642.1:p.Gly212= | |
| XM_011525341.1:c.636C>A | XP_011523643.1:p.Gly212= | |
| XM_011525332.3:c.636C>A | XP_011523634.1:p.Gly212= | |
| XM_011525333.3:c.636C>A | XP_011523635.1:p.Gly212= | |
| XM_011525334.2:c.636C>A | XP_011523636.1:p.Gly212= | |
| XM_011525335.3:c.636C>A | XP_011523637.1:p.Gly212= | |
| XM_011525336.2:c.636C>A | XP_011523638.1:p.Gly212= | |
| XM_011525337.2:c.636C>A | XP_011523639.1:p.Gly212= | |
| XM_011525338.2:c.153C>A | XP_011523640.1:p.Gly51= | |
| XM_011525339.3:c.636C>A | XP_011523641.1:p.Gly212= | |
| XM_011525340.3:c.636C>A | XP_011523642.1:p.Gly212= | |
| XM_011525341.3:c.636C>A | XP_011523643.1:p.Gly212= | |
| XM_017025200.1:c.153C>A | XP_016880689.1:p.Gly51= | |
| XM_017025201.1:c.93C>A | XP_016880690.1:p.Gly31= | |
| NM_032043.3:c.636C>A MANE Select | NP_114432.2:p.Gly212= |