Linked Data
ClinVar Variation Id:
2985785
ClinVar RCV Id:
RCV003841392
dbSNP Id:
rs755554916
ExAC:
5:89923173 C / T
gnomAD v2:
5-89923173-C-T
gnomAD v4:
5-90627356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627356C>T , CM000667.2:g.90627356C>T | GRCh38 |
| NC_000005.9:g.89923173C>T , CM000667.1:g.89923173C>T | GRCh37 |
| NC_000005.8:g.89958929C>T | NCBI36 |
| NG_007083.1:g.73557C>T | |
| NG_007083.2:g.103013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.818C>T MANE Select | ENSP00000384582.2:p.Pro273Leu | |
| ENST00000640083.1:n.523C>T | ||
| ENST00000640109.1:n.914C>T | ||
| ENST00000640281.1:n.877C>T | ||
| ENST00000405460.6:c.818C>T | ENSP00000384582.2:p.Pro273Leu | |
| NM_032119.3:c.818C>T | NP_115495.3:p.Pro273Leu | |
| NR_003149.1:n.914C>T | ||
| XM_011543675.1:c.818C>T | XP_011541977.1:p.Pro273Leu | |
| XM_011543676.1:c.818C>T | XP_011541978.1:p.Pro273Leu | |
| XM_011543678.1:c.818C>T | XP_011541980.1:p.Pro273Leu | |
| XM_011543679.1:c.818C>T | XP_011541981.1:p.Pro273Leu | |
| NM_032119.4:c.818C>T MANE Select | NP_115495.3:p.Pro273Leu | |
| XM_017009963.2:c.818C>T | XP_016865452.1:p.Pro273Leu | |
| XM_017009964.2:c.818C>T | XP_016865453.1:p.Pro273Leu | |
| XM_017009965.1:c.815C>T | XP_016865454.1:p.Pro272Leu | |
| XM_017009966.2:c.818C>T | XP_016865455.1:p.Pro273Leu | |
| XM_017009967.1:c.722C>T | XP_016865456.1:p.Pro241Leu | |
| XM_017009968.2:c.818C>T | XP_016865457.1:p.Pro273Leu | |
| XM_017009969.2:c.818C>T | XP_016865458.1:p.Pro273Leu | |
| XM_017009970.2:c.818C>T | XP_016865459.1:p.Pro273Leu | |
| XM_017009971.2:c.818C>T | XP_016865460.1:p.Pro273Leu | |
| XM_017009974.2:c.818C>T | XP_016865463.1:p.Pro273Leu | |
| NR_003149.2:n.917C>T |