Linked Data
ClinVar Variation Id:
2818951
ClinVar RCV Id:
RCV003713949
dbSNP Id:
rs1950514808
gnomAD v3:
11-118502456-T-C
gnomAD v4:
11-118502456-T-C
MyVariant Identifiers:
chr11:g.118373171T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118502456T>C , CM000673.2:g.118502456T>C | GRCh38 |
| NC_000011.9:g.118373171T>C , CM000673.1:g.118373171T>C | GRCh37 |
| NC_000011.8:g.117878381T>C | NCBI36 |
| NG_027813.1:g.70967T>C , LRG_613:g.70967T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.6663T>C | ENSP00000432391.3:p.Ser2221= | |
| ENST00000710560.1:c.6654T>C | ENSP00000518343.1:p.Ser2218= | |
| ENST00000649878.2:c.603T>C | ENSP00000497891.2:p.Ser201= | |
| ENST00000685397.1:c.603T>C | ENSP00000509586.1:p.Ser201= | |
| ENST00000686370.1:c.603T>C | ENSP00000509179.1:p.Ser201= | |
| ENST00000689424.1:c.861T>C | ENSP00000509852.1:p.Ser287= | |
| ENST00000691053.1:c.6636T>C | ENSP00000509168.1:p.Ser2212= | |
| ENST00000389506.10:c.6555T>C | ENSP00000374157.5:p.Ser2185= | |
| ENST00000528278.2:n.5906T>C | ||
| ENST00000534358.8:c.6564T>C MANE Select | ENSP00000436786.2:p.Ser2188= | |
| ENST00000649699.1:c.6441T>C | ENSP00000496927.1:p.Ser2147= | |
| ENST00000389506.9:c.6555T>C | ENSP00000374157.5:p.Ser2185= | |
| ENST00000528278.1:n.691T>C | ||
| ENST00000534358.5:c.6564T>C | ENSP00000436786.1:p.Ser2188= | |
| NM_001197104.1:c.6564T>C , LRG_613t1:c.6564T>C | NP_001184033.1:p.Ser2188= | |
| NM_005933.3:c.6555T>C | NP_005924.2:p.Ser2185= | |
| XM_006718839.2:c.4047T>C | XP_006718902.2:p.Ser1349= | |
| XM_011542829.1:c.6663T>C | XP_011541131.1:p.Ser2221= | |
| XM_011542830.1:c.6660T>C | XP_011541132.1:p.Ser2220= | |
| XM_011542831.1:c.6654T>C | XP_011541133.1:p.Ser2218= | |
| XM_011542832.1:c.4470T>C | XP_011541134.1:p.Ser1490= | |
| XM_011542833.1:c.4146T>C | XP_011541135.1:p.Ser1382= | |
| XM_006718839.3:c.4047T>C | XP_006718902.2:p.Ser1349= | |
| XM_011542829.2:c.6663T>C | XP_011541131.1:p.Ser2221= | |
| XM_011542830.2:c.6660T>C | XP_011541132.1:p.Ser2220= | |
| XM_011542831.2:c.6654T>C | XP_011541133.1:p.Ser2218= | |
| XM_011542833.2:c.4146T>C | XP_011541135.1:p.Ser1382= | |
| NM_001197104.2:c.6564T>C MANE Select | NP_001184033.1:p.Ser2188= | |
| NM_005933.4:c.6555T>C | NP_005924.2:p.Ser2185= |