Linked Data
ClinVar Variation Id:
2140580
ClinVar RCV Id:
RCV003073730
dbSNP Id:
rs763860544
ExAC:
19:4099360 A / G
gnomAD v2:
19-4099360-A-G
gnomAD v3:
19-4099362-A-G
gnomAD v4:
19-4099362-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099362A>G , CM000681.2:g.4099362A>G | GRCh38 |
| NC_000019.9:g.4099360A>G , CM000681.1:g.4099360A>G | GRCh37 |
| NC_000019.8:g.4050360A>G | NCBI36 |
| NG_007996.1:g.29767T>C , LRG_750:g.29767T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1197T>C | ||
| ENST00000687128.1:n.1197T>C | ||
| ENST00000688002.1:n.1052T>C | ||
| ENST00000689792.1:n.662T>C | ||
| ENST00000262948.10:c.758T>C MANE Select | ENSP00000262948.4:p.Met253Thr | |
| ENST00000262948.9:c.758T>C | ENSP00000262948.3:p.Met253Thr | |
| ENST00000394867.8:c.467T>C | ENSP00000378336.1:p.Met156Thr | |
| ENST00000593364.5:n.705T>C | ||
| ENST00000595715.1:n.573T>C | ||
| ENST00000597263.5:n.169+1657T>C | ||
| ENST00000599021.1:c.29+1657T>C | ||
| ENST00000600584.5:n.1318T>C | ||
| ENST00000601786.5:n.1059T>C | ||
| NM_030662.3:c.758T>C , LRG_750t1:c.758T>C | NP_109587.1:p.Met253Thr | |
| XM_006722799.2:c.705+1657T>C | XP_006722862.1:n.705+1657T>C | |
| XM_011528133.1:c.188T>C | XP_011526435.1:p.Met63Thr | |
| XM_017026989.1:c.758T>C | XP_016882478.1:p.Met253Thr | |
| XM_017026990.1:c.705+1657T>C | XP_016882479.1:n.705+1657T>C | |
| NM_030662.4:c.758T>C MANE Select | NP_109587.1:p.Met253Thr |