Linked Data
ClinVar Variation Id:
161489
ClinVar RCV Id:
RCV000149023
dbSNP Id:
rs193920821
ExAC:
19:44096255 C / T
gnomAD v2:
19-44096255-C-T
gnomAD v3:
19-43592103-C-T
gnomAD v4:
19-43592103-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43592103C>T , CM000681.2:g.43592103C>T | GRCh38 |
| NC_000019.9:g.44096255C>T , CM000681.1:g.44096255C>T | GRCh37 |
| NC_000019.8:g.48788095C>T | NCBI36 |
| NG_055008.1:g.9132G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422989.6:c.1795G>A MANE Select | ENSP00000387535.1:p.Gly599Ser | |
| ENST00000602269.2:c.1795G>A | ENSP00000472250.1:p.Gly599Ser | |
| ENST00000422989.5:c.1795G>A | ENSP00000387535.1:p.Gly599Ser | |
| ENST00000594374.1:c.169+765G>A | ||
| ENST00000601520.1:n.251+654G>A | ||
| ENST00000602269.1:c.1795G>A | ENSP00000472250.1:p.Gly599Ser | |
| NM_001007561.2:c.1795G>A | NP_001007562.1:p.Gly599Ser | |
| XM_005258515.2:c.1795G>A | XP_005258572.1:p.Gly599Ser | |
| XM_005258516.2:c.1795G>A | XP_005258573.1:p.Gly599Ser | |
| XM_005258515.3:c.1795G>A | XP_005258572.1:p.Gly599Ser | |
| NM_001007561.3:c.1795G>A MANE Select | NP_001007562.1:p.Gly599Ser | |
| NM_001388309.1:c.1795G>A | NP_001375238.1:p.Gly599Ser |