Linked Data
ClinVar Variation Id:
2943959
ClinVar RCV Id:
RCV003803517
MyVariant Identifiers:
chr11:g.68682434G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914966G>T , CM000673.2:g.68914966G>T | GRCh38 |
| NC_000011.9:g.68682434G>T , CM000673.1:g.68682434G>T | GRCh37 |
| NC_000011.8:g.68439010G>T | NCBI36 |
| NG_007976.1:g.16116G>T , LRG_250:g.16116G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.855G>T MANE Select | ENSP00000255078.4:p.Ala285= | |
| ENST00000539224.2:c.984G>T | ||
| ENST00000674955.1:c.855G>T | ENSP00000502463.1:p.Ala285= | |
| ENST00000675118.1:c.202G>T | ||
| ENST00000675119.1:c.144G>T | ENSP00000501861.1:p.Ala48= | |
| ENST00000675305.1:c.144G>T | ENSP00000502365.1:p.Ala48= | |
| ENST00000675464.1:c.144G>T | ENSP00000502650.1:p.Ala48= | |
| ENST00000675615.1:c.855G>T | ENSP00000502413.1:p.Ala285= | |
| ENST00000675683.1:c.242G>T | ||
| ENST00000676173.1:n.899G>T | ||
| ENST00000676228.1:c.*178G>T | ENSP00000502375.1:n.*178G>T | |
| ENST00000676239.1:n.169G>T | ||
| ENST00000255078.7:c.855G>T | ENSP00000255078.3:p.Ala285= | |
| NM_002180.2:c.855G>T , LRG_250t1:c.855G>T | NP_002171.2:p.Ala285= | |
| XM_005273974.2:c.-157G>T | XP_005274031.1:n.-157G>T | |
| XM_005273976.1:c.855G>T | XP_005274033.1:p.Ala285= | |
| XR_247198.1:n.957G>T | ||
| XR_949903.1:n.957G>T | ||
| XM_005273976.2:c.855G>T | XP_005274033.1:p.Ala285= | |
| XM_017017669.2:c.-157G>T | XP_016873158.1:n.-157G>T | |
| XM_017017670.2:c.-157G>T | XP_016873159.1:n.-157G>T | |
| XM_017017671.2:c.855G>T | XP_016873160.1:p.Ala285= | |
| XR_949903.3:n.953G>T | ||
| NM_002180.3:c.855G>T MANE Select | NP_002171.2:p.Ala285= |