Linked Data
ClinVar Variation Id:
2475931
ClinVar RCV Id:
RCV003193357
dbSNP Id:
rs1278034627
gnomAD v2:
11-118373944-G-A
gnomAD v3:
11-118503229-G-A
gnomAD v4:
11-118503229-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503229G>A , CM000673.2:g.118503229G>A | GRCh38 |
| NC_000011.9:g.118373944G>A , CM000673.1:g.118373944G>A | GRCh37 |
| NC_000011.8:g.117879154G>A | NCBI36 |
| NG_027813.1:g.71740G>A , LRG_613:g.71740G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7436G>A | ENSP00000432391.3:p.Ser2479Asn | |
| ENST00000710560.1:c.7427G>A | ENSP00000518343.1:p.Ser2476Asn | |
| ENST00000649878.2:c.1376G>A | ENSP00000497891.2:p.Ser459Asn | |
| ENST00000685397.1:c.1376G>A | ENSP00000509586.1:p.Ser459Asn | |
| ENST00000686370.1:c.1376G>A | ENSP00000509179.1:p.Ser459Asn | |
| ENST00000689424.1:c.1634G>A | ENSP00000509852.1:p.Ser545Asn | |
| ENST00000691053.1:c.7409G>A | ENSP00000509168.1:p.Ser2470Asn | |
| ENST00000389506.10:c.7328G>A | ENSP00000374157.5:p.Ser2443Asn | |
| ENST00000528278.2:n.6679G>A | ||
| ENST00000534358.8:c.7337G>A MANE Select | ENSP00000436786.2:p.Ser2446Asn | |
| ENST00000649699.1:c.7214G>A | ENSP00000496927.1:p.Ser2405Asn | |
| ENST00000389506.9:c.7328G>A | ENSP00000374157.5:p.Ser2443Asn | |
| ENST00000528278.1:n.1464G>A | ||
| ENST00000534358.5:c.7337G>A | ENSP00000436786.1:p.Ser2446Asn | |
| NM_001197104.1:c.7337G>A , LRG_613t1:c.7337G>A | NP_001184033.1:p.Ser2446Asn | |
| NM_005933.3:c.7328G>A | NP_005924.2:p.Ser2443Asn | |
| XM_006718839.2:c.4820G>A | XP_006718902.2:p.Ser1607Asn | |
| XM_011542829.1:c.7436G>A | XP_011541131.1:p.Ser2479Asn | |
| XM_011542830.1:c.7433G>A | XP_011541132.1:p.Ser2478Asn | |
| XM_011542831.1:c.7427G>A | XP_011541133.1:p.Ser2476Asn | |
| XM_011542832.1:c.5243G>A | XP_011541134.1:p.Ser1748Asn | |
| XM_011542833.1:c.4919G>A | XP_011541135.1:p.Ser1640Asn | |
| XM_006718839.3:c.4820G>A | XP_006718902.2:p.Ser1607Asn | |
| XM_011542829.2:c.7436G>A | XP_011541131.1:p.Ser2479Asn | |
| XM_011542830.2:c.7433G>A | XP_011541132.1:p.Ser2478Asn | |
| XM_011542831.2:c.7427G>A | XP_011541133.1:p.Ser2476Asn | |
| XM_011542833.2:c.4919G>A | XP_011541135.1:p.Ser1640Asn | |
| NM_001197104.2:c.7337G>A MANE Select | NP_001184033.1:p.Ser2446Asn | |
| NM_005933.4:c.7328G>A | NP_005924.2:p.Ser2443Asn |