Linked Data
ClinVar Variation Id:
192133
ClinVar RCV Id:
RCV000172597
RCV000223911
RCV000578085
RCV000625188
RCV001081032
RCV000852682
RCV003937542
dbSNP Id:
rs141443652
ExAC:
12:98927312 C / T
gnomAD v2:
12-98927312-C-T
gnomAD v3:
12-98533534-C-T
gnomAD v4:
12-98533534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98533534C>T , CM000674.2:g.98533534C>T | GRCh38 |
| NC_000012.11:g.98927312C>T , CM000674.1:g.98927312C>T | GRCh37 |
| NC_000012.10:g.97451443C>T | NCBI36 |
| NG_021393.1:g.22962C>T , LRG_443:g.22962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.565+1696C>T MANE Select | ENSP00000450627.1:n.565+1696C>T | |
| ENST00000261210.9:c.565+1696C>T | ENSP00000261210.5:n.565+1696C>T | |
| ENST00000266732.8:c.1277C>T | ENSP00000266732.4:p.Pro426Leu | |
| ENST00000343315.9:c.565+1696C>T | ENSP00000340251.5:n.565+1696C>T | |
| ENST00000393053.6:c.565+1696C>T | ENSP00000376773.2:n.565+1696C>T | |
| ENST00000552831.1:n.643+1696C>T | ||
| ENST00000556029.5:c.565+1696C>T | ENSP00000450627.1:n.565+1696C>T | |
| ENST00000556678.1:c.286+1696C>T | ENSP00000451552.1:n.286+1696C>T | |
| NM_001032283.2:c.565+1696C>T , LRG_443t1:c.565+1696C>T | NP_001027454.1:n.565+1696C>T | |
| NM_001032284.2:c.565+1696C>T | NP_001027455.1:n.565+1696C>T | |
| NM_001307975.1:c.565+1696C>T | NP_001294904.1:n.565+1696C>T | |
| NM_003276.2:c.1277C>T , LRG_443t2:c.1277C>T | NP_003267.1:p.Pro426Leu | |
| XM_005269132.2:c.565+1696C>T | XP_005269189.1:n.565+1696C>T | |
| XM_005269132.4:c.565+1696C>T | XP_005269189.1:n.565+1696C>T | |
| XM_017019914.2:c.371C>T | XP_016875403.1:p.Pro124Leu | |
| NM_001032283.3:c.565+1696C>T MANE Select | NP_001027454.1:n.565+1696C>T | |
| NM_001032284.3:c.565+1696C>T | NP_001027455.1:n.565+1696C>T | |
| NM_001307975.2:c.565+1696C>T | NP_001294904.1:n.565+1696C>T |