Linked Data
dbSNP Id:
rs149887823
ExAC:
10:69948821 C / G
gnomAD v2:
10-69948821-C-G
gnomAD v3:
10-68189064-C-G
gnomAD v4:
10-68189064-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68189064C>G , CM000672.2:g.68189064C>G | GRCh38 |
| NC_000010.10:g.69948821C>G , CM000672.1:g.69948821C>G | GRCh37 |
| NC_000010.9:g.69618827C>G | NCBI36 |
| NG_032118.1:g.87948C>G , LRG_410:g.87948C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354393.7:c.2038C>G | ENSP00000346369.2:p.Arg680Gly | |
| ENST00000540630.6:c.2917C>G | ENSP00000441668.3:p.Arg973Gly | |
| ENST00000613327.5:c.2863C>G | ENSP00000480757.2:p.Arg955Gly | |
| ENST00000688812.1:c.*126C>G | ENSP00000510658.1:n.*126C>G | |
| ENST00000690544.1:c.*2134C>G | ENSP00000508989.1:n.*2134C>G | |
| ENST00000358913.10:c.2863C>G MANE Select | ENSP00000351790.5:p.Arg955Gly | |
| ENST00000354393.6:c.2038C>G | ENSP00000346369.2:p.Arg680Gly | |
| ENST00000358913.9:c.2863C>G | ENSP00000351790.5:p.Arg955Gly | |
| ENST00000540630.5:c.2863C>G | ENSP00000441668.2:p.Arg955Gly | |
| ENST00000613327.4:c.1981C>G | ENSP00000480757.1:p.Arg661Gly | |
| NM_001256267.1:c.2863C>G | NP_001243196.1:p.Arg955Gly | |
| NM_001256268.1:c.1981C>G | NP_001243197.1:p.Arg661Gly | |
| NM_032578.3:c.2863C>G , LRG_410t1:c.2863C>G | NP_115967.2:p.Arg955Gly | |
| NR_045662.3:n.2290C>G | ||
| NR_045663.3:n.2992C>G | ||
| XM_006718043.2:c.2917C>G | XP_006718106.1:p.Arg973Gly | |
| XM_011540292.1:c.2893C>G | XP_011538594.1:p.Arg965Gly | |
| XM_017016833.1:c.2941C>G | XP_016872322.1:p.Arg981Gly | |
| XM_017016834.2:c.2863C>G | XP_016872323.1:p.Arg955Gly | |
| XM_024448236.1:c.1741C>G | XP_024304004.1:p.Arg581Gly | |
| NR_045662.4:n.2400C>G | ||
| NR_045663.4:n.2937C>G | ||
| NM_001256267.2:c.2863C>G | NP_001243196.1:p.Arg955Gly | |
| NM_001256268.2:c.1981C>G | NP_001243197.1:p.Arg661Gly | |
| NM_032578.4:c.2863C>G MANE Select | NP_115967.2:p.Arg955Gly |