Linked Data
ClinVar Variation Id:
1410579
ClinVar RCV Id:
RCV001928103
dbSNP Id:
rs199474738
gnomAD v2:
17-29552152-G-C
gnomAD v4:
17-31225134-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31225134G>C , CM000679.2:g.31225134G>C | GRCh38 |
| NC_000017.10:g.29552152G>C , CM000679.1:g.29552152G>C | GRCh37 |
| NC_000017.9:g.26576278G>C | NCBI36 |
| NG_009018.1:g.135158G>C , LRG_214:g.135158G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1930G>C | ENSP00000512431.1:p.Gly644Arg | |
| ENST00000691014.1:c.1915G>C | ENSP00000510595.1:p.Gly639Arg | |
| ENST00000358273.9:c.1885G>C MANE Select | ENSP00000351015.4:p.Gly629Arg | |
| ENST00000356175.7:c.1885G>C | ENSP00000348498.3:p.Gly629Arg | |
| ENST00000358273.8:c.1885G>C | ENSP00000351015.4:p.Gly629Arg | |
| ENST00000456735.6:c.883G>C | ENSP00000389907.2:p.Gly295Arg | |
| ENST00000493220.5:n.52G>C | ||
| ENST00000495910.6:c.1660G>C | ||
| ENST00000579081.5:c.1987G>C | ENSP00000462408.1:p.Gly663Arg | |
| NM_000267.3:c.1885G>C , LRG_214t1:c.1885G>C | NP_000258.1:p.Gly629Arg | |
| NM_001042492.2:c.1885G>C , LRG_214t2:c.1885G>C | NP_001035957.1:p.Gly629Arg | |
| XM_005257983.1:c.1885G>C | XP_005258040.1:p.Gly629Arg | |
| XM_005257984.1:c.1885G>C | XP_005258041.1:p.Gly629Arg | |
| XM_006721922.1:c.1915G>C | XP_006721985.1:p.Gly639Arg | |
| XM_006721923.2:c.1876G>C | XP_006721986.1:p.Gly626Arg | |
| XM_006721924.1:c.1915G>C | XP_006721987.1:p.Gly639Arg | |
| XM_006721925.1:c.1915G>C | XP_006721988.1:p.Gly639Arg | |
| XM_006721926.2:c.1915G>C | XP_006721989.1:p.Gly639Arg | |
| XM_006721927.1:c.1915G>C | XP_006721990.1:p.Gly639Arg | |
| XM_006721928.2:c.1915G>C | XP_006721991.1:p.Gly639Arg | |
| XM_011524852.1:c.1912G>C | XP_011523154.1:p.Gly638Arg | |
| XM_011524853.1:c.1876G>C | XP_011523155.1:p.Gly626Arg | |
| XM_011524854.1:c.1876G>C | XP_011523156.1:p.Gly626Arg | |
| XM_011524855.1:c.1876G>C | XP_011523157.1:p.Gly626Arg | |
| XM_011524856.1:c.1876G>C | XP_011523158.1:p.Gly626Arg | |
| XM_011524857.1:c.1915G>C | XP_011523159.1:p.Gly639Arg | |
| NM_001042492.3:c.1885G>C MANE Select | NP_001035957.1:p.Gly629Arg |