Linked Data
ClinVar Variation Id:
576357
ClinVar RCV Id:
RCV000698837
dbSNP Id:
rs772243999
gnomAD v4:
1-16989743-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16989743G>C , CM000663.2:g.16989743G>C | GRCh38 |
| NC_000001.10:g.17316238G>C , CM000663.1:g.17316238G>C | GRCh37 |
| NC_000001.9:g.17188825G>C | NCBI36 |
| NG_009054.1:g.27186C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.2557C>G MANE Select | ENSP00000327214.8:p.Arg853Gly | |
| ENST00000326735.12:c.2557C>G | ENSP00000327214.8:p.Arg853Gly | |
| ENST00000341676.9:c.2425C>G | ENSP00000341115.5:p.Arg809Gly | |
| ENST00000452699.5:c.2542C>G | ENSP00000413307.1:p.Arg848Gly | |
| ENST00000466561.1:n.431C>G | ||
| ENST00000502418.1:c.145C>G | ENSP00000423065.1:p.Arg49Gly | |
| NM_001141973.2:c.2542C>G | NP_001135445.1:p.Arg848Gly | |
| NM_001141974.2:c.2425C>G | NP_001135446.1:p.Arg809Gly | |
| NM_022089.3:c.2557C>G | NP_071372.1:p.Arg853Gly | |
| XM_005245809.1:c.2557C>G | XP_005245866.1:p.Arg853Gly | |
| XM_005245810.1:c.2554C>G | XP_005245867.1:p.Arg852Gly | |
| XM_005245811.1:c.2542C>G | XP_005245868.1:p.Arg848Gly | |
| XM_005245812.1:c.2530C>G | XP_005245869.1:p.Arg844Gly | |
| XM_005245813.1:c.2497C>G | XP_005245870.1:p.Arg833Gly | |
| XM_005245815.1:c.2440C>G | XP_005245872.1:p.Arg814Gly | |
| XM_006710512.1:c.2539C>G | XP_006710575.1:p.Arg847Gly | |
| XM_006710513.1:c.2515C>G | XP_006710576.1:p.Arg839Gly | |
| XM_011541128.1:c.2542C>G | XP_011539430.1:p.Arg848Gly | |
| XM_011541129.1:c.2350C>G | XP_011539431.1:p.Arg784Gly | |
| XM_017000844.1:c.2542C>G | XP_016856333.1:p.Arg848Gly | |
| XM_017000845.1:c.2539C>G | XP_016856334.1:p.Arg847Gly | |
| XM_017000846.1:c.2515C>G | XP_016856335.1:p.Arg839Gly | |
| XM_017000847.1:c.2512C>G | XP_016856336.1:p.Arg838Gly | |
| XM_017000848.1:c.2440C>G | XP_016856337.1:p.Arg814Gly | |
| XM_017000849.1:c.2425C>G | XP_016856338.1:p.Arg809Gly | |
| XM_017000850.1:c.2350C>G | XP_016856339.1:p.Arg784Gly | |
| NM_022089.4:c.2557C>G MANE Select | NP_071372.1:p.Arg853Gly | |
| NM_001141973.3:c.2542C>G | NP_001135445.1:p.Arg848Gly | |
| NM_001141974.3:c.2425C>G | NP_001135446.1:p.Arg809Gly |