Linked Data
dbSNP Id:
rs768063257
ExAC:
1:211093340 C / T
gnomAD v2:
1-211093340-C-T
gnomAD v4:
1-210919998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210919998C>T , CM000663.2:g.210919998C>T | GRCh38 |
| NC_000001.10:g.211093340C>T , CM000663.1:g.211093340C>T | GRCh37 |
| NC_000001.9:g.209159963C>T | NCBI36 |
| NG_029777.1:g.219118G>A | |
| NG_029777.2:g.219118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271751.10:c.1104G>A MANE Select | ENSP00000271751.4:p.Leu368= | |
| ENST00000367007.5:c.1023G>A | ENSP00000355974.5:p.Leu341= | |
| ENST00000638357.1:c.437G>A | ||
| ENST00000638498.1:c.1104G>A | ENSP00000490983.1:p.Leu368= | |
| ENST00000638960.1:c.1023G>A | ENSP00000492302.1:p.Leu341= | |
| ENST00000638983.1:c.952-58804G>A | ENSP00000492641.1:n.952-58804G>A | |
| ENST00000639385.1:n.472G>A | ||
| ENST00000639602.1:c.894G>A | ENSP00000492303.1:p.Leu298= | |
| ENST00000639754.1:n.1307G>A | ||
| ENST00000639952.1:c.1023G>A | ENSP00000492697.1:p.Leu341= | |
| ENST00000640044.1:c.311-115832G>A | ENSP00000491434.1:n.311-115832G>A | |
| ENST00000640243.1:c.951+98866G>A | ENSP00000492803.1:n.951+98866G>A | |
| ENST00000640522.1:c.1032+98785G>A | ENSP00000491019.1:n.1032+98785G>A | |
| ENST00000640528.1:c.1023G>A | ENSP00000491725.1:p.Leu341= | |
| ENST00000640566.1:c.311-144454G>A | ENSP00000491302.1:n.311-144454G>A | |
| ENST00000640710.1:c.1023G>A | ENSP00000492513.1:p.Leu341= | |
| ENST00000640890.1:n.1125G>A | ||
| ENST00000271751.8:c.1104G>A | ENSP00000271751.4:p.Leu368= | |
| ENST00000367007.4:c.1023G>A | ENSP00000355974.4:p.Leu341= | |
| NM_002238.3:c.1023G>A | NP_002229.1:p.Leu341= | |
| NM_172362.2:c.1104G>A | NP_758872.1:p.Leu368= | |
| XM_011509514.1:c.-73G>A | XP_011507816.1:n.-73G>A | |
| XM_017001246.1:c.-73G>A | XP_016856735.1:n.-73G>A | |
| NM_172362.3:c.1104G>A MANE Select | NP_758872.1:p.Leu368= | |
| NM_002238.4:c.1023G>A | NP_002229.1:p.Leu341= |