Linked Data
ClinVar Variation Id:
42152
ClinVar RCV Id:
RCV000034979
dbSNP Id:
rs386134140
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149182004C>A , CM000665.2:g.149182004C>A | GRCh38 |
| NC_000003.11:g.148899791C>A , CM000665.1:g.148899791C>A | GRCh37 |
| NC_000003.10:g.150382481C>A | NCBI36 |
| NG_011800.1:g.45042G>T | |
| NG_011800.2:g.45042G>T | |
| NG_011800.3:g.45042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2554+1G>T MANE Select | ENSP00000264613.6:n.2554+1G>T | |
| ENST00000264613.10:c.2554+1G>T | ENSP00000264613.6:n.2554+1G>T | |
| ENST00000481169.5:c.2341+1G>T | ENSP00000418773.1:n.2341+1G>T | |
| ENST00000490639.5:n.2586+1G>T | ||
| ENST00000494544.1:c.1903+1G>T | ENSP00000420545.1:n.1903+1G>T | |
| NM_000096.3:c.2554+1G>T | NP_000087.1:n.2554+1G>T | |
| NR_046371.1:n.2594+1G>T | ||
| XM_006713499.2:c.2554+1G>T | XP_006713562.1:n.2554+1G>T | |
| XM_006713500.2:c.2554+1G>T | XP_006713563.1:n.2554+1G>T | |
| XM_006713501.2:c.2554+1G>T | XP_006713564.1:n.2554+1G>T | |
| XM_006713502.2:c.2554+1G>T | XP_006713565.1:n.2554+1G>T | |
| XM_011512435.1:c.2554+1G>T | XP_011510737.1:n.2554+1G>T | |
| XR_427361.2:n.2812+1G>T | ||
| XM_006713499.3:c.2554+1G>T | XP_006713562.1:n.2554+1G>T | |
| XM_006713500.4:c.2554+1G>T | XP_006713563.1:n.2554+1G>T | |
| XM_006713501.3:c.2554+1G>T | XP_006713564.1:n.2554+1G>T | |
| XM_011512435.2:c.2554+1G>T | XP_011510737.1:n.2554+1G>T | |
| XM_017005734.2:c.2554+1G>T | XP_016861223.1:n.2554+1G>T | |
| XM_017005735.2:c.2554+1G>T | XP_016861224.1:n.2554+1G>T | |
| XR_427361.3:n.2770+1G>T | ||
| NM_000096.4:c.2554+1G>T MANE Select | NP_000087.2:n.2554+1G>T | |
| NR_046371.2:n.2378+1G>T |