Linked Data
ClinVar Variation Id:
292453
dbSNP Id:
rs144069395
ExAC:
1:147231334 T / C
gnomAD v2:
1-147231334-T-C
gnomAD v3:
1-147759226-T-C
gnomAD v4:
1-147759226-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147759226T>C , CM000663.2:g.147759226T>C | GRCh38 |
| NC_000001.10:g.147231334T>C , CM000663.1:g.147231334T>C | GRCh37 |
| NC_000001.9:g.145697958T>C | NCBI36 |
| NG_009369.2:g.19149A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579774.3:c.13A>G MANE Select | ENSP00000463851.1:p.Ser5Gly | |
| ENST00000430508.1:c.13A>G | ENSP00000407645.1:p.Ser5Gly | |
| ENST00000579774.2:c.13A>G | ENSP00000463851.1:p.Ser5Gly | |
| ENST00000621517.1:c.13A>G | ENSP00000484552.1:p.Ser5Gly | |
| NM_005266.6:c.13A>G | NP_005257.2:p.Ser5Gly | |
| NM_181703.3:c.13A>G | NP_859054.1:p.Ser5Gly | |
| XM_005272951.3:c.13A>G | XP_005273008.1:p.Ser5Gly | |
| XM_011509415.1:c.13A>G | XP_011507717.1:p.Ser5Gly | |
| XR_922078.1:n.434-18335T>C | ||
| XR_922079.1:n.434-18335T>C | ||
| XM_005272951.4:c.13A>G | XP_005273008.1:p.Ser5Gly | |
| XM_017001044.1:c.13A>G | XP_016856533.1:p.Ser5Gly | |
| XR_922079.3:n.744-18335T>C | ||
| NM_181703.4:c.13A>G MANE Select | NP_859054.1:p.Ser5Gly | |
| NM_005266.7:c.13A>G | NP_005257.2:p.Ser5Gly |