Linked Data
dbSNP Id:
rs149122773
gnomAD v2:
3-113890723-G-A
gnomAD v3:
3-114171876-G-A
gnomAD v4:
3-114171876-G-A
COSMIC:
COSM108859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114171876G>A , CM000665.2:g.114171876G>A | GRCh38 |
| NC_000003.11:g.113890723G>A , CM000665.1:g.113890723G>A | GRCh37 |
| NC_000003.10:g.115373413G>A | NCBI36 |
| NG_008842.2:g.32532C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.117C>T | ENSP00000513607.1:p.Leu39= | |
| ENST00000383673.5:c.117C>T MANE Select | ENSP00000373169.2:p.Leu39= | |
| ENST00000295881.9:c.117C>T | ENSP00000295881.6:p.Leu39= | |
| ENST00000383673.4:c.117C>T | ENSP00000373169.2:p.Leu39= | |
| ENST00000460779.5:c.117C>T | ENSP00000419402.1:p.Leu39= | |
| ENST00000467632.5:c.117C>T | ENSP00000420662.1:p.Leu39= | |
| NM_000796.5:c.117C>T | NP_000787.2:p.Leu39= | |
| NM_001282563.2:c.117C>T | NP_001269492.1:p.Leu39= | |
| NM_001290809.1:c.117C>T | NP_001277738.1:p.Leu39= | |
| NM_033663.5:c.117C>T | NP_387512.3:p.Leu39= | |
| XM_011512510.1:c.117C>T | XP_011510812.1:p.Leu39= | |
| XM_011512511.1:c.117C>T | XP_011510813.1:p.Leu39= | |
| XM_011512512.1:c.117C>T | XP_011510814.1:p.Leu39= | |
| XM_017005829.1:c.117C>T | XP_016861318.1:p.Leu39= | |
| NM_000796.6:c.117C>T MANE Select | NP_000787.2:p.Leu39= | |
| NM_033663.6:c.117C>T | NP_387512.3:p.Leu39= |