Linked Data
ClinVar Variation Id:
2119653
dbSNP Id:
rs2047211168
gnomAD v3:
19-15238458-G-A
gnomAD v4:
19-15238458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15238458G>A , CM000681.2:g.15238458G>A | GRCh38 |
| NC_000019.9:g.15349269G>A , CM000681.1:g.15349269G>A | GRCh37 |
| NC_000019.8:g.15210269G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679869.1:c.4021-13C>T MANE Select | ENSP00000506350.1:n.4021-13C>T | |
| ENST00000263377.6:c.4021-13C>T | ENSP00000263377.1:n.4021-13C>T | |
| NM_058243.2:c.4021-13C>T | NP_490597.1:n.4021-13C>T | |
| XM_011527854.1:c.4021-13C>T | XP_011526156.1:n.4021-13C>T | |
| XM_011527854.2:c.4021-13C>T | XP_011526156.1:n.4021-13C>T | |
| NM_001379291.1:c.4021-13C>T MANE Select | NP_001366220.1:n.4021-13C>T | |
| NM_058243.3:c.4021-13C>T | NP_490597.1:n.4021-13C>T |