Linked Data
ClinVar Variation Id:
575877
ClinVar RCV Id:
RCV000698217
dbSNP Id:
rs1560424620
gnomAD v4:
4-54736541-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54736541A>G , CM000666.2:g.54736541A>G | GRCh38 |
| NC_000004.11:g.55602707A>G , CM000666.1:g.55602707A>G | GRCh37 |
| NC_000004.10:g.55297464A>G | NCBI36 |
| NG_007456.1:g.83547A>G , LRG_307:g.83547A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.2516A>G | ENSP00000390987.3:p.Asn839Ser | |
| ENST00000684818.1:n.1220A>G | ||
| ENST00000685269.1:n.2606A>G | ||
| ENST00000686011.1:c.2513A>G | ENSP00000509704.1:p.Asn838Ser | |
| ENST00000687109.1:c.2531A>G | ENSP00000509371.1:p.Asn844Ser | |
| ENST00000687208.1:n.2940A>G | ||
| ENST00000687246.1:c.2393A>G | ENSP00000509114.1:p.Asn798Ser | |
| ENST00000687265.1:n.2686A>G | ||
| ENST00000687295.1:c.2516A>G | ENSP00000509450.1:p.Asn839Ser | |
| ENST00000688060.1:n.325A>G | ||
| ENST00000689832.1:c.2528A>G | ENSP00000509084.1:p.Asn843Ser | |
| ENST00000689994.1:c.2018A>G | ENSP00000509156.1:p.Asn673Ser | |
| ENST00000690543.1:c.2519A>G | ENSP00000508831.1:p.Asn840Ser | |
| ENST00000690917.1:n.2746A>G | ||
| ENST00000691361.1:n.1438A>G | ||
| ENST00000692301.1:n.1220A>G | ||
| ENST00000692783.1:c.2525A>G | ENSP00000508733.1:p.Asn842Ser | |
| ENST00000692991.1:n.2625A>G | ||
| ENST00000288135.6:c.2528A>G MANE Select | ENSP00000288135.6:p.Asn843Ser | |
| ENST00000288135.5:c.2528A>G | ENSP00000288135.5:p.Asn843Ser | |
| ENST00000412167.6:c.2516A>G | ENSP00000390987.2:p.Asn839Ser | |
| NM_000222.2:c.2528A>G , LRG_307t1:c.2528A>G | NP_000213.1:p.Asn843Ser | |
| NM_001093772.1:c.2516A>G | NP_001087241.1:p.Asn839Ser | |
| XM_005265740.1:c.2531A>G | XP_005265797.1:p.Asn844Ser | |
| XM_005265741.1:c.2528A>G | XP_005265798.1:p.Asn843Ser | |
| XM_005265742.1:c.2519A>G | XP_005265799.1:p.Asn840Ser | |
| XM_005265742.3:c.2519A>G | XP_005265799.1:p.Asn840Ser | |
| XM_017008178.1:c.2525A>G | XP_016863667.1:p.Asn842Ser | |
| XM_017008179.1:c.2516A>G | XP_016863668.1:p.Asn839Ser | |
| XM_017008180.1:c.2513A>G | XP_016863669.1:p.Asn838Ser | |
| NM_000222.3:c.2528A>G MANE Select | NP_000213.1:p.Asn843Ser | |
| NM_001093772.2:c.2516A>G | NP_001087241.1:p.Asn839Ser | |
| NM_001385284.1:c.2531A>G | NP_001372213.1:p.Asn844Ser | |
| NM_001385285.1:c.2525A>G | NP_001372214.1:p.Asn842Ser | |
| NM_001385286.1:c.2513A>G | NP_001372215.1:p.Asn838Ser | |
| NM_001385288.1:c.2519A>G | NP_001372217.1:p.Asn840Ser | |
| NM_001385290.1:c.2528A>G | NP_001372219.1:p.Asn843Ser | |
| NM_001385292.1:c.2516A>G | NP_001372221.1:p.Asn839Ser |