Linked Data
dbSNP Id:
rs10787498
gnomAD v2:
10-115489650-T-G
gnomAD v3:
10-113729891-T-G
gnomAD v4:
10-113729891-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113729891T>G , CM000672.2:g.113729891T>G | GRCh38 |
| NC_000010.10:g.115489650T>G , CM000672.1:g.115489650T>G | GRCh37 |
| NC_000010.9:g.115479640T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369318.8:c.*351T>G MANE Select | ENSP00000358324.4:n.*351T>G | |
| ENST00000672138.1:c.*351T>G | ENSP00000500735.1:n.*351T>G | |
| ENST00000345633.8:c.*351T>G | ENSP00000298701.7:n.*351T>G | |
| ENST00000369315.5:c.*351T>G | ENSP00000358321.1:n.*351T>G | |
| ENST00000369318.7:c.*351T>G | ENSP00000358324.3:n.*351T>G | |
| ENST00000369321.6:c.*351T>G | ENSP00000358327.3:n.*351T>G | |
| ENST00000369331.8:c.*467T>G | ENSP00000358337.3:n.*467T>G | |
| ENST00000452490.3:c.*351T>G | ENSP00000398107.2:n.*351T>G | |
| ENST00000614447.4:c.*467T>G | ENSP00000478285.1:n.*467T>G | |
| ENST00000621345.4:c.*351T>G | ENSP00000480584.1:n.*351T>G | |
| ENST00000621607.4:c.1362T>G | ENSP00000478999.1:n.1362T>G | |
| NM_001227.4:c.*351T>G | NP_001218.1:n.*351T>G | |
| NM_001267056.1:c.*351T>G | NP_001253985.1:n.*351T>G | |
| NM_001267057.1:c.*351T>G | NP_001253986.1:n.*351T>G | |
| NM_001267058.1:c.*351T>G | NP_001253987.1:n.*351T>G | |
| NM_033338.5:c.*351T>G | NP_203124.1:n.*351T>G | |
| NM_033339.4:c.*351T>G | NP_203125.1:n.*351T>G | |
| NM_033340.3:c.*467T>G | NP_203126.1:n.*467T>G | |
| XM_006718017.2:c.*351T>G | XP_006718080.1:n.*351T>G | |
| XM_006718018.1:c.*351T>G | XP_006718081.1:n.*351T>G | |
| XM_011540259.1:c.*351T>G | XP_011538561.1:n.*351T>G | |
| XM_011540260.1:c.*351T>G | XP_011538562.1:n.*351T>G | |
| NM_001320911.1:c.*351T>G | NP_001307840.1:n.*351T>G | |
| XM_006718017.3:c.*351T>G | XP_006718080.1:n.*351T>G | |
| XM_017016763.1:c.*351T>G | XP_016872252.1:n.*351T>G | |
| XM_017016764.1:c.*351T>G | XP_016872253.1:n.*351T>G | |
| NM_001227.5:c.*351T>G MANE Select | NP_001218.1:n.*351T>G | |
| NM_001320911.2:c.*351T>G | NP_001307840.1:n.*351T>G | |
| NM_033338.6:c.*351T>G | NP_203124.1:n.*351T>G | |
| NM_033339.5:c.*351T>G | NP_203125.1:n.*351T>G | |
| NM_033340.4:c.*467T>G | NP_203126.1:n.*467T>G | |
| NM_001267056.2:c.*351T>G | NP_001253985.1:n.*351T>G | |
| NM_001267058.2:c.*351T>G | NP_001253987.1:n.*351T>G |