Linked Data
ClinVar Variation Id:
189018
ClinVar RCV Id:
RCV000169405
dbSNP Id:
rs764220898
ExAC:
14:94847380 C / G
gnomAD v2:
14-94847380-C-G
gnomAD v3:
14-94381043-C-G
gnomAD v4:
14-94381043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94381043C>G , CM000676.2:g.94381043C>G | GRCh38 |
| NC_000014.8:g.94847380C>G , CM000676.1:g.94847380C>G | GRCh37 |
| NC_000014.7:g.93917133C>G | NCBI36 |
| NG_008290.1:g.14650G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393087.9:c.745G>C MANE Select | ENSP00000376802.4:p.Gly249Arg | |
| ENST00000636712.1:c.745G>C | ENSP00000490054.1:p.Gly249Arg | |
| ENST00000355814.8:c.745G>C | ENSP00000348068.4:p.Gly249Arg | |
| ENST00000393087.8:c.745G>C | ENSP00000376802.4:p.Gly249Arg | |
| ENST00000393088.8:c.745G>C | ENSP00000376803.4:p.Gly249Arg | |
| ENST00000402629.1:c.745G>C | ENSP00000386094.1:p.Gly249Arg | |
| ENST00000404814.8:c.745G>C | ENSP00000385960.4:p.Gly249Arg | |
| ENST00000437397.5:c.745G>C | ENSP00000408474.1:p.Gly249Arg | |
| ENST00000440909.5:c.745G>C | ENSP00000390299.1:p.Gly249Arg | |
| ENST00000448921.5:c.745G>C | ENSP00000416066.1:p.Gly249Arg | |
| ENST00000449399.7:c.745G>C | ENSP00000416354.3:p.Gly249Arg | |
| ENST00000489769.1:c.745G>C | ENSP00000451525.1:p.Gly249Arg | |
| NM_000295.4:c.745G>C | NP_000286.3:p.Gly249Arg | |
| NM_001002235.2:c.745G>C | NP_001002235.1:p.Gly249Arg | |
| NM_001002236.2:c.745G>C | NP_001002236.1:p.Gly249Arg | |
| NM_001127700.1:c.745G>C | NP_001121172.1:p.Gly249Arg | |
| NM_001127701.1:c.745G>C | NP_001121173.1:p.Gly249Arg | |
| NM_001127702.1:c.745G>C | NP_001121174.1:p.Gly249Arg | |
| NM_001127703.1:c.745G>C | NP_001121175.1:p.Gly249Arg | |
| NM_001127704.1:c.745G>C | NP_001121176.1:p.Gly249Arg | |
| NM_001127705.1:c.745G>C | NP_001121177.1:p.Gly249Arg | |
| NM_001127706.1:c.745G>C | NP_001121178.1:p.Gly249Arg | |
| NM_001127707.1:c.745G>C | NP_001121179.1:p.Gly249Arg | |
| XM_017021370.1:c.745G>C | XP_016876859.1:p.Gly249Arg | |
| NM_000295.5:c.745G>C MANE Select | NP_000286.3:p.Gly249Arg | |
| NM_001002235.3:c.745G>C | NP_001002235.1:p.Gly249Arg | |
| NM_001002236.3:c.745G>C | NP_001002236.1:p.Gly249Arg | |
| NM_001127700.2:c.745G>C | NP_001121172.1:p.Gly249Arg | |
| NM_001127701.2:c.745G>C | NP_001121173.1:p.Gly249Arg | |
| NM_001127702.2:c.745G>C | NP_001121174.1:p.Gly249Arg | |
| NM_001127703.2:c.745G>C | NP_001121175.1:p.Gly249Arg | |
| NM_001127704.2:c.745G>C | NP_001121176.1:p.Gly249Arg | |
| NM_001127705.2:c.745G>C | NP_001121177.1:p.Gly249Arg | |
| NM_001127706.2:c.745G>C | NP_001121178.1:p.Gly249Arg | |
| NM_001127707.2:c.745G>C | NP_001121179.1:p.Gly249Arg |