Linked Data
ClinVar Variation Id:
225119
ClinVar RCV Id:
RCV000210743
dbSNP Id:
rs1060499536
gnomAD v2:
5-149276341-T-C
gnomAD v4:
5-149896778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149896778T>C , CM000667.2:g.149896778T>C | GRCh38 |
| NC_000005.9:g.149276341T>C , CM000667.1:g.149276341T>C | GRCh37 |
| NC_000005.8:g.149256534T>C | NCBI36 |
| NG_009102.1:g.53016A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255266.10:c.1408-2A>G MANE Select | ENSP00000255266.5:n.1408-2A>G | |
| ENST00000255266.9:c.1408-2A>G | ENSP00000255266.5:n.1408-2A>G | |
| ENST00000508173.5:n.1384-2A>G | ||
| ENST00000613228.1:c.1165-2A>G | ENSP00000478060.1:n.1165-2A>G | |
| ENST00000617647.4:c.1165-2A>G | ENSP00000482774.1:n.1165-2A>G | |
| NM_000440.2:c.1408-2A>G | NP_000431.2:n.1408-2A>G | |
| XM_011537648.1:c.1408-2A>G | XP_011535950.1:n.1408-2A>G | |
| XM_011537649.1:c.862-2A>G | XP_011535951.1:n.862-2A>G | |
| XM_011537650.1:c.523-2A>G | XP_011535952.1:n.523-2A>G | |
| XM_011537651.1:c.361-2A>G | XP_011535953.1:n.361-2A>G | |
| XM_011537652.1:c.331-2A>G | XP_011535954.1:n.331-2A>G | |
| XM_011537653.1:c.331-2A>G | XP_011535955.1:n.331-2A>G | |
| XM_011537654.1:c.331-2A>G | XP_011535956.1:n.331-2A>G | |
| XM_011537650.2:c.523-2A>G | XP_011535952.1:n.523-2A>G | |
| XM_011537651.2:c.361-2A>G | XP_011535953.1:n.361-2A>G | |
| XM_011537653.2:c.331-2A>G | XP_011535955.1:n.331-2A>G | |
| XM_011537654.2:c.331-2A>G | XP_011535956.1:n.331-2A>G | |
| XM_017009572.2:c.1165-2A>G | XP_016865061.1:n.1165-2A>G | |
| NM_000440.3:c.1408-2A>G MANE Select | NP_000431.2:n.1408-2A>G |