Linked Data
ClinVar Variation Id:
1807358
ClinVar RCV Id:
RCV002475315
dbSNP Id:
rs1294800420
gnomAD v2:
19-15302588-G-A
gnomAD v3:
19-15191777-G-A
gnomAD v4:
19-15191777-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191777G>A , CM000681.2:g.15191777G>A | GRCh38 |
| NC_000019.9:g.15302588G>A , CM000681.1:g.15302588G>A | GRCh37 |
| NC_000019.8:g.15163588G>A | NCBI36 |
| NG_009819.1:g.14205C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.770C>T MANE Select | ENSP00000263388.1:p.Thr257Ile | |
| ENST00000263388.6:c.770C>T | ENSP00000263388.1:p.Thr257Ile | |
| ENST00000601011.1:c.767C>T | ENSP00000473138.1:p.Thr256Ile | |
| NM_000435.2:c.770C>T | NP_000426.2:p.Thr257Ile | |
| XM_005259924.3:c.770C>T | XP_005259981.1:p.Thr257Ile | |
| XM_005259924.4:c.770C>T | XP_005259981.1:p.Thr257Ile | |
| NM_000435.3:c.770C>T MANE Select | NP_000426.2:p.Thr257Ile |