Linked Data
dbSNP Id:
rs2043589141
gnomAD v4:
10-68195491-G-A
MyVariant Identifiers:
chr10:g.69955248G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195491G>A , CM000672.2:g.68195491G>A | GRCh38 |
| NC_000010.10:g.69955248G>A , CM000672.1:g.69955248G>A | GRCh37 |
| NC_000010.9:g.69625254G>A | NCBI36 |
| NG_032118.1:g.94375G>A , LRG_410:g.94375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2292G>A | ENSP00000346369.2:p.Leu764= | |
| ENST00000540630.6:c.3171G>A | ENSP00000441668.3:p.Leu1057= | |
| ENST00000613327.5:c.3117G>A | ENSP00000480757.2:p.Leu1039= | |
| ENST00000688812.1:c.*380G>A | ENSP00000510658.1:n.*380G>A | |
| ENST00000690544.1:c.*2388G>A | ENSP00000508989.1:n.*2388G>A | |
| ENST00000358913.10:c.3117G>A MANE Select | ENSP00000351790.5:p.Leu1039= | |
| ENST00000354393.6:c.2292G>A | ENSP00000346369.2:p.Leu764= | |
| ENST00000358913.9:c.3117G>A | ENSP00000351790.5:p.Leu1039= | |
| ENST00000540630.5:c.3117G>A | ENSP00000441668.2:p.Leu1039= | |
| ENST00000613327.4:c.2235G>A | ENSP00000480757.1:p.Leu745= | |
| NM_001256267.1:c.3117G>A | NP_001243196.1:p.Leu1039= | |
| NM_001256268.1:c.2235G>A | NP_001243197.1:p.Leu745= | |
| NM_032578.3:c.3117G>A , LRG_410t1:c.3117G>A | NP_115967.2:p.Leu1039= | |
| NR_045662.3:n.2544G>A | ||
| NR_045663.3:n.3246G>A | ||
| XM_006718043.2:c.3171G>A | XP_006718106.1:p.Leu1057= | |
| XM_011540292.1:c.3147G>A | XP_011538594.1:p.Leu1049= | |
| XM_017016833.1:c.3195G>A | XP_016872322.1:p.Leu1065= | |
| XM_017016834.2:c.3117G>A | XP_016872323.1:p.Leu1039= | |
| XM_024448236.1:c.1995G>A | XP_024304004.1:p.Leu665= | |
| NR_045662.4:n.2654G>A | ||
| NR_045663.4:n.3191G>A | ||
| NM_001256267.2:c.3117G>A | NP_001243196.1:p.Leu1039= | |
| NM_001256268.2:c.2235G>A | NP_001243197.1:p.Leu745= | |
| NM_032578.4:c.3117G>A MANE Select | NP_115967.2:p.Leu1039= |