Linked Data
ClinVar Variation Id:
161499
ClinVar RCV Id:
RCV000149033
dbSNP Id:
rs193920749
gnomAD v2:
20-36841958-C-A
gnomAD v4:
20-38213556-C-A
COSMIC:
COSM1178632
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38213556C>A , CM000682.2:g.38213556C>A | GRCh38 |
| NC_000020.10:g.36841958C>A , CM000682.1:g.36841958C>A | GRCh37 |
| NC_000020.9:g.36275372C>A | NCBI36 |
| NG_053038.1:g.52217G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279024.9:c.3089G>T MANE Select | ENSP00000279024.4:p.Gly1030Val | |
| ENST00000279024.8:c.3089G>T | ENSP00000279024.4:p.Gly1030Val | |
| ENST00000460881.5:n.1265G>T | ||
| ENST00000484362.1:n.1368G>T | ||
| ENST00000487506.1:n.1041G>T | ||
| NM_001029864.1:c.3089G>T | NP_001025035.1:p.Gly1030Val | |
| NM_001348708.1:c.2042G>T | NP_001335637.1:p.Gly681Val | |
| NR_145960.1:n.1698G>T | ||
| XM_024452008.1:c.3050G>T | XP_024307776.1:p.Gly1017Val | |
| XM_024452009.1:c.2972G>T | XP_024307777.1:p.Gly991Val | |
| XM_024452010.1:c.2885G>T | XP_024307778.1:p.Gly962Val | |
| XM_024452012.1:c.2246G>T | XP_024307780.1:p.Gly749Val | |
| XM_024452013.1:c.2048G>T | XP_024307781.1:p.Gly683Val | |
| XR_002958538.1:n.3507G>T | ||
| XR_002958539.1:n.3496G>T | ||
| XR_002958540.1:n.3465G>T | ||
| XR_002958541.1:n.3212G>T | ||
| NM_001029864.2:c.3089G>T MANE Select | NP_001025035.1:p.Gly1030Val | |
| NM_001348708.2:c.2042G>T | NP_001335637.1:p.Gly681Val | |
| NR_145960.2:n.1661G>T |