Linked Data
ClinVar Variation Id:
289983
dbSNP Id:
rs756756960
gnomAD v2:
18-21119893-G-A
gnomAD v3:
18-23539929-G-A
gnomAD v4:
18-23539929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539929G>A , CM000680.2:g.23539929G>A | GRCh38 |
| NC_000018.9:g.21119893G>A , CM000680.1:g.21119893G>A | GRCh37 |
| NC_000018.8:g.19373891G>A | NCBI36 |
| NG_012795.1:g.51689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2677C>T MANE Select | ENSP00000269228.4:p.Leu893= | |
| ENST00000269228.9:c.2677C>T | ENSP00000269228.4:p.Leu893= | |
| ENST00000540608.5:n.2591C>T | ||
| ENST00000586718.1:n.468C>T | ||
| ENST00000591051.1:c.1755C>T | ||
| NM_000271.4:c.2677C>T | NP_000262.2:p.Leu893= | |
| XM_005258277.1:c.2728C>T | XP_005258334.1:p.Leu910= | |
| XM_005258278.3:c.2728C>T | XP_005258335.1:p.Leu910= | |
| XM_005258279.1:c.2677C>T | XP_005258336.1:p.Leu893= | |
| XM_006722479.2:c.2728C>T | XP_006722542.1:p.Leu910= | |
| XM_011526015.1:c.2263C>T | XP_011524317.1:p.Leu755= | |
| XM_005258278.5:c.2728C>T | XP_005258335.1:p.Leu910= | |
| XM_005258279.2:c.2677C>T | XP_005258336.1:p.Leu893= | |
| XM_006722479.3:c.2728C>T | XP_006722542.1:p.Leu910= | |
| XM_017025784.1:c.2728C>T | XP_016881273.1:p.Leu910= | |
| XM_017025785.1:c.2728C>T | XP_016881274.1:p.Leu910= | |
| XM_017025786.1:c.2677C>T | XP_016881275.1:p.Leu893= | |
| XM_017025787.1:c.2677C>T | XP_016881276.1:p.Leu893= | |
| NM_000271.5:c.2677C>T MANE Select | NP_000262.2:p.Leu893= |