Linked Data
ClinVar Variation Id:
1145680
ClinVar RCV Id:
RCV001484622
dbSNP Id:
rs1487739192
gnomAD v2:
1-147231200-C-T
gnomAD v3:
1-147759092-C-T
gnomAD v4:
1-147759092-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147759092C>T , CM000663.2:g.147759092C>T | GRCh38 |
| NC_000001.10:g.147231200C>T , CM000663.1:g.147231200C>T | GRCh37 |
| NC_000001.9:g.145697824C>T | NCBI36 |
| NG_009369.2:g.19283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.147G>A MANE Select | ENSP00000463851.1:p.Gln49= | |
| ENST00000430508.1:c.147G>A | ENSP00000407645.1:p.Gln49= | |
| ENST00000579774.2:c.147G>A | ENSP00000463851.1:p.Gln49= | |
| ENST00000621517.1:c.147G>A | ENSP00000484552.1:p.Gln49= | |
| NM_005266.6:c.147G>A | NP_005257.2:p.Gln49= | |
| NM_181703.3:c.147G>A | NP_859054.1:p.Gln49= | |
| XM_005272951.3:c.147G>A | XP_005273008.1:p.Gln49= | |
| XM_011509415.1:c.147G>A | XP_011507717.1:p.Gln49= | |
| XR_922078.1:n.434-18469C>T | ||
| XR_922079.1:n.434-18469C>T | ||
| XM_005272951.4:c.147G>A | XP_005273008.1:p.Gln49= | |
| XM_017001044.1:c.147G>A | XP_016856533.1:p.Gln49= | |
| XR_922079.3:n.744-18469C>T | ||
| NM_181703.4:c.147G>A MANE Select | NP_859054.1:p.Gln49= | |
| NM_005266.7:c.147G>A | NP_005257.2:p.Gln49= |