Linked Data
ClinVar Variation Id:
330940
ClinVar RCV Id:
RCV000363530
dbSNP Id:
rs11524
gnomAD v2:
2-11966317-T-C
gnomAD v3:
2-11826191-T-C
gnomAD v4:
2-11826191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11826191T>C , CM000664.2:g.11826191T>C | GRCh38 |
| NC_000002.11:g.11966317T>C , CM000664.1:g.11966317T>C | GRCh37 |
| NC_000002.10:g.11883768T>C | NCBI36 |
| NG_012843.2:g.153613T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674199.1:c.*1400T>C MANE Select | ENSP00000501331.1:n.*1400T>C | |
| ENST00000256720.6:c.*1400T>C | ENSP00000256720.2:n.*1400T>C | |
| ENST00000396097.5:c.*1400T>C | ENSP00000379404.2:n.*1400T>C | |
| ENST00000404113.6:n.3666T>C | ||
| ENST00000425416.6:c.*1400T>C | ENSP00000401522.2:n.*1400T>C | |
| ENST00000475922.1:n.5110T>C | ||
| NM_001261427.1:c.*1400T>C | NP_001248356.1:n.*1400T>C | |
| NM_001261428.1:c.*1400T>C | NP_001248357.1:n.*1400T>C | |
| NM_145693.2:c.*1400T>C | NP_663731.1:n.*1400T>C | |
| XM_006711869.1:c.*1400T>C | XP_006711932.1:n.*1400T>C | |
| XM_006711870.2:c.*1400T>C | XP_006711933.1:n.*1400T>C | |
| XM_006711871.1:c.*1400T>C | XP_006711934.1:n.*1400T>C | |
| XM_006711872.1:c.*1400T>C | XP_006711935.1:n.*1400T>C | |
| XM_006711874.1:c.*1400T>C | XP_006711937.1:n.*1400T>C | |
| XM_011510333.1:c.*1400T>C | XP_011508635.1:n.*1400T>C | |
| XM_011510334.1:c.*1400T>C | XP_011508636.1:n.*1400T>C | |
| XM_011510335.1:c.*1400T>C | XP_011508637.1:n.*1400T>C | |
| XM_011510336.1:c.*1400T>C | XP_011508638.1:n.*1400T>C | |
| NM_001261427.2:c.*1400T>C | NP_001248356.1:n.*1400T>C | |
| NM_001261428.2:c.*1400T>C | NP_001248357.1:n.*1400T>C | |
| NM_001349199.1:c.*1400T>C | NP_001336128.1:n.*1400T>C | |
| NM_001349200.1:c.*1400T>C | NP_001336129.1:n.*1400T>C | |
| NM_001349201.1:c.*1400T>C | NP_001336130.1:n.*1400T>C | |
| NM_001349202.1:c.*1400T>C | NP_001336131.1:n.*1400T>C | |
| NM_001349203.1:c.*1400T>C | NP_001336132.1:n.*1400T>C | |
| NM_001349204.1:c.*1400T>C | NP_001336133.1:n.*1400T>C | |
| NM_001349205.1:c.*1400T>C | NP_001336134.1:n.*1400T>C | |
| NM_001349206.1:c.*1400T>C | NP_001336135.1:n.*1400T>C | |
| NM_001349207.1:c.*1400T>C | NP_001336136.1:n.*1400T>C | |
| NM_001349208.1:c.*1400T>C | NP_001336137.1:n.*1400T>C | |
| NM_145693.3:c.*1400T>C | NP_663731.1:n.*1400T>C | |
| NR_146080.1:n.4321T>C | ||
| XM_006711870.4:c.*1400T>C | XP_006711933.1:n.*1400T>C | |
| XM_006711872.3:c.*1400T>C | XP_006711935.1:n.*1400T>C | |
| XM_011510334.3:c.*1400T>C | XP_011508636.1:n.*1400T>C | |
| XM_011510335.3:c.*1400T>C | XP_011508637.1:n.*1400T>C | |
| XM_011510336.3:c.*1400T>C | XP_011508638.1:n.*1400T>C | |
| XM_017003623.2:c.*1400T>C | XP_016859112.1:n.*1400T>C | |
| XM_017003624.2:c.*1400T>C | XP_016859113.1:n.*1400T>C | |
| XM_017003625.2:c.*1400T>C | XP_016859114.1:n.*1400T>C | |
| XM_017003627.2:c.*1400T>C | XP_016859116.1:n.*1400T>C | |
| XM_017003628.2:c.*1400T>C | XP_016859117.1:n.*1400T>C | |
| XM_024452762.1:c.*1400T>C | XP_024308530.1:n.*1400T>C | |
| NM_001261428.3:c.*1400T>C | NP_001248357.1:n.*1400T>C | |
| NM_001349199.2:c.*1400T>C | NP_001336128.1:n.*1400T>C | |
| NM_001349200.2:c.*1400T>C | NP_001336129.1:n.*1400T>C | |
| NM_001349201.2:c.*1400T>C | NP_001336130.1:n.*1400T>C | |
| NM_001349202.2:c.*1400T>C | NP_001336131.1:n.*1400T>C | |
| NM_001349203.2:c.*1400T>C | NP_001336132.1:n.*1400T>C | |
| NM_001349204.2:c.*1400T>C | NP_001336133.1:n.*1400T>C | |
| NM_001349206.2:c.*1400T>C MANE Select | NP_001336135.1:n.*1400T>C | |
| NM_001349207.2:c.*1400T>C | NP_001336136.1:n.*1400T>C | |
| NM_001349208.2:c.*1400T>C | NP_001336137.1:n.*1400T>C | |
| NM_145693.4:c.*1400T>C | NP_663731.1:n.*1400T>C | |
| NR_146080.2:n.4274T>C | ||
| NM_001261427.3:c.*1400T>C | NP_001248356.1:n.*1400T>C | |
| NM_001349205.2:c.*1400T>C | NP_001336134.1:n.*1400T>C |