Linked Data
ClinVar Variation Id:
3028480
ClinVar RCV Id:
RCV003889850
dbSNP Id:
rs1400574905
gnomAD v3:
1-197434835-A-T
gnomAD v4:
1-197434835-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434835A>T , CM000663.2:g.197434835A>T | GRCh38 |
| NC_000001.10:g.197403965A>T , CM000663.1:g.197403965A>T | GRCh37 |
| NC_000001.9:g.195670588A>T | NCBI36 |
| NG_008483.1:g.171558A>T | |
| NG_008483.2:g.238374A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2972A>T MANE Select | ENSP00000356370.3:p.His991Leu | |
| ENST00000638467.1:c.2972A>T | ENSP00000491102.1:p.His991Leu | |
| ENST00000681519.1:c.1853A>T | ENSP00000505267.1:p.His618Leu | |
| ENST00000367397.1:c.1115A>T | ENSP00000356367.1:p.His372Leu | |
| ENST00000367399.6:c.2636A>T | ENSP00000356369.2:p.His879Leu | |
| ENST00000367400.7:c.2972A>T | ENSP00000356370.3:p.His991Leu | |
| ENST00000484075.5:c.2972A>T | ENSP00000433932.1:p.His991Leu | |
| ENST00000535699.5:c.2900A>T | ENSP00000438786.1:p.His967Leu | |
| ENST00000538660.5:c.2129-765A>T | ENSP00000438091.1:n.2129-765A>T | |
| NM_001193640.1:c.2636A>T | NP_001180569.1:p.His879Leu | |
| NM_001257965.1:c.2900A>T | NP_001244894.1:p.His967Leu | |
| NM_001257966.1:c.2129-765A>T | NP_001244895.1:n.2129-765A>T | |
| NM_201253.2:c.2972A>T | NP_957705.1:p.His991Leu | |
| NR_047563.1:n.2973A>T | ||
| NR_047564.1:n.3181A>T | ||
| XM_011509365.1:c.2972A>T | XP_011507667.1:p.His991Leu | |
| XM_011509366.1:c.2972A>T | XP_011507668.1:p.His991Leu | |
| XM_011509367.1:c.2972A>T | XP_011507669.1:p.His991Leu | |
| XM_011509368.1:c.2390A>T | XP_011507670.1:p.His797Leu | |
| XM_011509369.1:c.1415A>T | XP_011507671.1:p.His472Leu | |
| XM_011509365.2:c.2972A>T | XP_011507667.1:p.His991Leu | |
| XM_011509369.2:c.1415A>T | XP_011507671.1:p.His472Leu | |
| XM_017000851.1:c.2129A>T | XP_016856340.1:p.His710Leu | |
| XM_017000852.1:c.3107A>T | XP_016856341.1:p.His1036Leu | |
| NM_201253.3:c.2972A>T MANE Select | NP_957705.1:p.His991Leu | |
| NM_001193640.2:c.2636A>T | NP_001180569.1:p.His879Leu | |
| NM_001257965.2:c.2900A>T | NP_001244894.1:p.His967Leu | |
| NR_047563.2:n.2925A>T | ||
| NR_047564.2:n.3133A>T | ||
| NM_001257966.2:c.2129-765A>T | NP_001244895.1:n.2129-765A>T |