Linked Data
ClinVar Variation Id:
2690270
ClinVar RCV Id:
RCV003491692
dbSNP Id:
rs1482901881
gnomAD v2:
5-14487768-C-G
gnomAD v3:
5-14487659-C-G
gnomAD v4:
5-14487659-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14487659C>G , CM000667.2:g.14487659C>G | GRCh38 |
| NC_000005.9:g.14487768C>G , CM000667.1:g.14487768C>G | GRCh37 |
| NC_000005.8:g.14540768C>G | NCBI36 |
| NG_052962.1:g.348958C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698542.1:c.1940C>G | ENSP00000513787.1:p.Pro647Arg | |
| ENST00000344204.9:c.7031C>G MANE Select | ENSP00000339299.4:p.Pro2344Arg | |
| ENST00000344204.8:c.7031C>G | ENSP00000339299.4:p.Pro2344Arg | |
| ENST00000510281.1:n.731C>G | ||
| ENST00000512070.6:c.6854C>G | ENSP00000421555.2:p.Pro2285Arg | |
| ENST00000513206.5:c.6230C>G | ENSP00000426342.2:p.Pro2077Arg | |
| ENST00000515144.5:n.5949C>G | ||
| ENST00000620511.1:c.705+6041C>G | ENSP00000483869.1:n.705+6041C>G | |
| NM_007118.2:c.7031C>G | NP_009049.2:p.Pro2344Arg | |
| XM_011514107.1:c.6968C>G | XP_011512409.1:p.Pro2323Arg | |
| XM_011514108.1:c.6914C>G | XP_011512410.1:p.Pro2305Arg | |
| XM_011514109.1:c.6884C>G | XP_011512411.1:p.Pro2295Arg | |
| XM_011514110.1:c.6854C>G | XP_011512412.1:p.Pro2285Arg | |
| XM_011514111.1:c.6854C>G | XP_011512413.1:p.Pro2285Arg | |
| XM_011514112.1:c.5576C>G | XP_011512414.1:p.Pro1859Arg | |
| XR_241714.1:n.7049C>G | ||
| NM_007118.3:c.7031C>G | NP_009049.2:p.Pro2344Arg | |
| NR_134469.1:n.7055C>G | ||
| XM_011514107.2:c.6968C>G | XP_011512409.1:p.Pro2323Arg | |
| XM_011514109.3:c.6884C>G | XP_011512411.1:p.Pro2295Arg | |
| XM_011514110.3:c.6854C>G | XP_011512412.1:p.Pro2285Arg | |
| XM_017009801.1:c.7031C>G | XP_016865290.1:p.Pro2344Arg | |
| XM_017009802.1:c.7031C>G | XP_016865291.1:p.Pro2344Arg | |
| XM_017009803.1:c.5576C>G | XP_016865292.1:p.Pro1859Arg | |
| NM_007118.4:c.7031C>G MANE Select | NP_009049.2:p.Pro2344Arg | |
| NR_134469.2:n.7415C>G |