Linked Data
ClinVar Variation Id:
230614
ClinVar RCV Id:
RCV000213385
RCV000559747
RCV000681229
RCV001125813
RCV001125815
RCV001125814
RCV002415908
dbSNP Id:
rs779546178
gnomAD v2:
17-29553474-G-A
gnomAD v3:
17-31226456-G-A
gnomAD v4:
17-31226456-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31226456G>A , CM000679.2:g.31226456G>A | GRCh38 |
| NC_000017.10:g.29553474G>A , CM000679.1:g.29553474G>A | GRCh37 |
| NC_000017.9:g.26577600G>A | NCBI36 |
| NG_009018.1:g.136480G>A , LRG_214:g.136480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.2068G>A | ENSP00000512431.1:p.Gly690Arg | |
| ENST00000691014.1:c.2053G>A | ENSP00000510595.1:p.Gly685Arg | |
| ENST00000358273.9:c.2023G>A MANE Select | ENSP00000351015.4:p.Gly675Arg | |
| ENST00000356175.7:c.2023G>A | ENSP00000348498.3:p.Gly675Arg | |
| ENST00000358273.8:c.2023G>A | ENSP00000351015.4:p.Gly675Arg | |
| ENST00000456735.6:c.1021G>A | ENSP00000389907.2:p.Gly341Arg | |
| ENST00000493220.5:n.190G>A | ||
| ENST00000495910.6:c.1798G>A | ||
| ENST00000579081.5:c.2125G>A | ENSP00000462408.1:p.Gly709Arg | |
| NM_000267.3:c.2023G>A , LRG_214t1:c.2023G>A | NP_000258.1:p.Gly675Arg | |
| NM_001042492.2:c.2023G>A , LRG_214t2:c.2023G>A | NP_001035957.1:p.Gly675Arg | |
| XM_005257983.1:c.2023G>A | XP_005258040.1:p.Gly675Arg | |
| XM_005257984.1:c.2023G>A | XP_005258041.1:p.Gly675Arg | |
| XM_006721922.1:c.2053G>A | XP_006721985.1:p.Gly685Arg | |
| XM_006721923.2:c.2014G>A | XP_006721986.1:p.Gly672Arg | |
| XM_006721924.1:c.2053G>A | XP_006721987.1:p.Gly685Arg | |
| XM_006721925.1:c.2053G>A | XP_006721988.1:p.Gly685Arg | |
| XM_006721926.2:c.2053G>A | XP_006721989.1:p.Gly685Arg | |
| XM_006721927.1:c.2053G>A | XP_006721990.1:p.Gly685Arg | |
| XM_006721928.2:c.2053G>A | XP_006721991.1:p.Gly685Arg | |
| XM_011524852.1:c.2050G>A | XP_011523154.1:p.Gly684Arg | |
| XM_011524853.1:c.2014G>A | XP_011523155.1:p.Gly672Arg | |
| XM_011524854.1:c.2014G>A | XP_011523156.1:p.Gly672Arg | |
| XM_011524855.1:c.2014G>A | XP_011523157.1:p.Gly672Arg | |
| XM_011524856.1:c.2014G>A | XP_011523158.1:p.Gly672Arg | |
| XM_011524857.1:c.2053G>A | XP_011523159.1:p.Gly685Arg | |
| NM_001042492.3:c.2023G>A MANE Select | NP_001035957.1:p.Gly675Arg |