Linked Data
ClinVar Variation Id:
1534240
ClinVar RCV Id:
RCV002071534
dbSNP Id:
rs2134390854
gnomAD v4:
11-118503164-T-C
MyVariant Identifiers:
chr11:g.118373879T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503164T>C , CM000673.2:g.118503164T>C | GRCh38 |
| NC_000011.9:g.118373879T>C , CM000673.1:g.118373879T>C | GRCh37 |
| NC_000011.8:g.117879089T>C | NCBI36 |
| NG_027813.1:g.71675T>C , LRG_613:g.71675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7371T>C | ENSP00000432391.3:p.Ser2457= | |
| ENST00000710560.1:c.7362T>C | ENSP00000518343.1:p.Ser2454= | |
| ENST00000649878.2:c.1311T>C | ENSP00000497891.2:p.Ser437= | |
| ENST00000685397.1:c.1311T>C | ENSP00000509586.1:p.Ser437= | |
| ENST00000686370.1:c.1311T>C | ENSP00000509179.1:p.Ser437= | |
| ENST00000689424.1:c.1569T>C | ENSP00000509852.1:p.Ser523= | |
| ENST00000691053.1:c.7344T>C | ENSP00000509168.1:p.Ser2448= | |
| ENST00000389506.10:c.7263T>C | ENSP00000374157.5:p.Ser2421= | |
| ENST00000528278.2:n.6614T>C | ||
| ENST00000534358.8:c.7272T>C MANE Select | ENSP00000436786.2:p.Ser2424= | |
| ENST00000649699.1:c.7149T>C | ENSP00000496927.1:p.Ser2383= | |
| ENST00000389506.9:c.7263T>C | ENSP00000374157.5:p.Ser2421= | |
| ENST00000528278.1:n.1399T>C | ||
| ENST00000534358.5:c.7272T>C | ENSP00000436786.1:p.Ser2424= | |
| NM_001197104.1:c.7272T>C , LRG_613t1:c.7272T>C | NP_001184033.1:p.Ser2424= | |
| NM_005933.3:c.7263T>C | NP_005924.2:p.Ser2421= | |
| XM_006718839.2:c.4755T>C | XP_006718902.2:p.Ser1585= | |
| XM_011542829.1:c.7371T>C | XP_011541131.1:p.Ser2457= | |
| XM_011542830.1:c.7368T>C | XP_011541132.1:p.Ser2456= | |
| XM_011542831.1:c.7362T>C | XP_011541133.1:p.Ser2454= | |
| XM_011542832.1:c.5178T>C | XP_011541134.1:p.Ser1726= | |
| XM_011542833.1:c.4854T>C | XP_011541135.1:p.Ser1618= | |
| XM_006718839.3:c.4755T>C | XP_006718902.2:p.Ser1585= | |
| XM_011542829.2:c.7371T>C | XP_011541131.1:p.Ser2457= | |
| XM_011542830.2:c.7368T>C | XP_011541132.1:p.Ser2456= | |
| XM_011542831.2:c.7362T>C | XP_011541133.1:p.Ser2454= | |
| XM_011542833.2:c.4854T>C | XP_011541135.1:p.Ser1618= | |
| NM_001197104.2:c.7272T>C MANE Select | NP_001184033.1:p.Ser2424= | |
| NM_005933.4:c.7263T>C | NP_005924.2:p.Ser2421= |