Linked Data
dbSNP Id:
rs2276305
ExAC:
11:113803104 G / C
gnomAD v2:
11-113803104-G-C
gnomAD v3:
11-113932382-G-C
gnomAD v4:
11-113932382-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932382G>C , CM000673.2:g.113932382G>C | GRCh38 |
| NC_000011.9:g.113803104G>C , CM000673.1:g.113803104G>C | GRCh37 |
| NC_000011.8:g.113308314G>C | NCBI36 |
| NG_011483.1:g.32516G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260191.8:c.462G>C MANE Select | ENSP00000260191.2:p.Ala154= | |
| ENST00000260191.7:c.462G>C | ENSP00000260191.2:p.Ala154= | |
| ENST00000260191.6:c.462G>C | ENSP00000260191.2:p.Ala154= | |
| ENST00000537778.5:c.429G>C | ENSP00000443118.1:p.Ala143= | |
| ENST00000543092.1:c.248G>C | ||
| NM_006028.4:c.462G>C | NP_006019.1:p.Ala154= | |
| XM_011543063.1:c.429G>C | XP_011541365.1:p.Ala143= | |
| XM_011543064.1:c.261G>C | XP_011541366.1:p.Ala87= | |
| XM_011543065.1:c.255G>C | XP_011541367.1:p.Ala85= | |
| XM_011543066.1:c.429G>C | XP_011541368.1:p.Ala143= | |
| NM_001363563.1:c.429G>C | NP_001350492.1:p.Ala143= | |
| XM_017018552.2:c.255G>C | XP_016874041.1:p.Ala85= | |
| XM_024448767.1:c.168G>C | XP_024304535.1:p.Ala56= | |
| XR_001748034.2:n.713G>C | ||
| NM_001363563.2:c.429G>C | NP_001350492.1:p.Ala143= | |
| NM_006028.5:c.462G>C MANE Select | NP_006019.1:p.Ala154= |