Linked Data
dbSNP Id:
rs755414716
ExAC:
11:128680529 G / T
gnomAD v2:
11-128680529-G-T
gnomAD v4:
11-128810634-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810634G>T , CM000673.2:g.128810634G>T | GRCh38 |
| NC_000011.9:g.128680529G>T , CM000673.1:g.128680529G>T | GRCh37 |
| NC_000011.8:g.128185739G>T | NCBI36 |
| NG_032912.1:g.129100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1026G>T | ENSP00000513017.1:p.Leu342= | |
| ENST00000527786.7:c.1005G>T MANE Select | ENSP00000433488.2:p.Leu335= | |
| ENST00000281428.12:c.807G>T | ENSP00000281428.8:p.Leu269= | |
| ENST00000344954.10:c.426G>T | ENSP00000339627.7:p.Leu142= | |
| ENST00000429175.7:c.*927G>T | ENSP00000399985.3:n.*927G>T | |
| ENST00000527786.6:c.1005G>T | ENSP00000433488.2:p.Leu335= | |
| ENST00000528790.1:n.3588G>T | ||
| ENST00000534087.3:c.906G>T | ENSP00000432950.1:p.Leu302= | |
| ENST00000608303.5:c.*397G>T | ENSP00000477262.1:n.*397G>T | |
| NM_001167681.2:c.906G>T | NP_001161153.1:p.Leu302= | |
| NM_001271010.1:c.807G>T | NP_001257939.1:p.Leu269= | |
| NM_001271012.1:c.426G>T | NP_001257941.1:p.Leu142= | |
| NM_002017.4:c.1005G>T | NP_002008.2:p.Leu335= | |
| XM_011542701.1:c.906G>T | XP_011541003.1:p.Leu302= | |
| XM_011542702.1:c.879G>T | XP_011541004.1:p.Leu293= | |
| XM_011542701.2:c.906G>T | XP_011541003.1:p.Leu302= | |
| XM_017017405.1:c.906G>T | XP_016872894.1:p.Leu302= | |
| XM_017017406.1:c.906G>T | XP_016872895.1:p.Leu302= | |
| NM_002017.5:c.1005G>T MANE Select | NP_002008.2:p.Leu335= | |
| NM_001167681.3:c.906G>T | NP_001161153.1:p.Leu302= | |
| NM_001271010.2:c.807G>T | NP_001257939.1:p.Leu269= | |
| NM_001271012.2:c.426G>T | NP_001257941.1:p.Leu142= |