Linked Data
ClinVar Variation Id:
497203
dbSNP Id:
rs774124713
ExAC:
5:90398073 C / T
gnomAD v2:
5-90398073-C-T
gnomAD v3:
5-91102256-C-T
gnomAD v4:
5-91102256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91102256C>T , CM000667.2:g.91102256C>T | GRCh38 |
| NC_000005.9:g.90398073C>T , CM000667.1:g.90398073C>T | GRCh37 |
| NC_000005.8:g.90433829C>T | NCBI36 |
| NG_007083.1:g.548457C>T | |
| NG_007083.2:g.577913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18348C>T MANE Select | ENSP00000384582.2:p.Ser6116= | |
| ENST00000425867.3:c.7302C>T | ENSP00000392618.3:p.Ser2434= | |
| ENST00000638510.1:n.5615C>T | ||
| ENST00000638990.1:c.1560C>T | ||
| ENST00000639212.1:n.268C>T | ||
| ENST00000639530.1:n.216C>T | ||
| ENST00000639821.1:c.432C>T | ENSP00000492216.1:p.Ser144= | |
| ENST00000640256.1:n.216C>T | ||
| ENST00000640407.1:c.4797C>T | ENSP00000491425.1:n.4797C>T | |
| ENST00000640815.1:c.432C>T | ENSP00000491767.1:p.Ser144= | |
| ENST00000405460.6:c.18348C>T | ENSP00000384582.2:p.Ser6116= | |
| ENST00000425867.2:c.5331C>T | ENSP00000392618.2:p.Ser1777= | |
| NM_032119.3:c.18348C>T | NP_115495.3:p.Ser6116= | |
| NR_003149.1:n.18361C>T | ||
| XM_011543675.1:c.18345C>T | XP_011541977.1:p.Ser6115= | |
| XM_011543676.1:c.18267C>T | XP_011541978.1:p.Ser6089= | |
| XM_011543677.1:c.15651C>T | XP_011541979.1:p.Ser5217= | |
| NM_032119.4:c.18348C>T MANE Select | NP_115495.3:p.Ser6116= | |
| XM_017009963.2:c.18369C>T | XP_016865452.1:p.Ser6123= | |
| XM_017009964.2:c.18366C>T | XP_016865453.1:p.Ser6122= | |
| XM_017009965.1:c.18366C>T | XP_016865454.1:p.Ser6122= | |
| XM_017009966.2:c.18288C>T | XP_016865455.1:p.Ser6096= | |
| XM_017009967.1:c.18273C>T | XP_016865456.1:p.Ser6091= | |
| XM_017009968.2:c.18189C>T | XP_016865457.1:p.Ser6063= | |
| XM_017009969.2:c.18369C>T | XP_016865458.1:p.Ser6123= | |
| XM_017009972.1:c.11487C>T | XP_016865461.1:p.Ser3829= | |
| XM_017009973.1:c.11466C>T | XP_016865462.1:p.Ser3822= | |
| NR_003149.2:n.18364C>T |