Linked Data
ClinVar Variation Id:
158057
dbSNP Id:
rs201404524
ExAC:
5:37138940 G / A
gnomAD v2:
5-37138940-G-A
gnomAD v3:
5-37138838-G-A
gnomAD v4:
5-37138838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37138838G>A , CM000667.2:g.37138838G>A | GRCh38 |
| NC_000005.9:g.37138940G>A , CM000667.1:g.37138940G>A | GRCh37 |
| NC_000005.8:g.37174697G>A | NCBI36 |
| NG_032772.1:g.115591C>T | |
| NG_032772.2:g.115591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1673C>T | ||
| ENST00000651892.2:c.8674C>T MANE Select | ENSP00000498265.2:p.His2892Tyr | |
| ENST00000425232.6:c.8512C>T | ENSP00000389014.2:p.His2838Tyr | |
| ENST00000504716.1:n.259C>T | ||
| ENST00000505121.1:n.374C>T | ||
| ENST00000508244.5:c.8512C>T | ENSP00000421690.1:p.His2838Tyr | |
| ENST00000508405.1:n.375C>T | ||
| ENST00000509849.5:c.5655C>T | ENSP00000426337.1:p.Tyr1885= | |
| ENST00000509957.5:n.3855C>T | ||
| ENST00000512288.5:n.223C>T | ||
| ENST00000514429.5:c.5710C>T | ENSP00000424223.1:p.His1904Tyr | |
| NM_023073.3:c.8512C>T | NP_075561.3:p.His2838Tyr | |
| XM_005248345.2:c.8674C>T | XP_005248402.1:p.His2892Tyr | |
| XM_005248346.2:c.8671C>T | XP_005248403.1:p.His2891Tyr | |
| XM_005248347.2:c.8671C>T | XP_005248404.1:p.His2891Tyr | |
| XM_005248349.2:c.8563C>T | XP_005248406.1:p.His2855Tyr | |
| XM_005248350.2:c.8545C>T | XP_005248407.1:p.His2849Tyr | |
| XM_005248353.3:c.5317C>T | XP_005248410.1:p.His1773Tyr | |
| XM_006714489.2:c.8674C>T | XP_006714552.1:p.His2892Tyr | |
| XM_006714491.2:c.3247C>T | XP_006714554.1:p.His1083Tyr | |
| XM_011514085.1:c.8674C>T | XP_011512387.1:p.His2892Tyr | |
| XM_011514086.1:c.8674C>T | XP_011512388.1:p.His2892Tyr | |
| XM_011514087.1:c.8620C>T | XP_011512389.1:p.His2874Tyr | |
| XM_011514088.1:c.8566C>T | XP_011512390.1:p.His2856Tyr | |
| XM_011514089.1:c.8674C>T | XP_011512391.1:p.His2892Tyr | |
| XM_011514090.1:c.8356C>T | XP_011512392.1:p.His2786Tyr | |
| XM_011514091.1:c.8002C>T | XP_011512393.1:p.His2668Tyr | |
| XM_011514092.1:c.8674C>T | XP_011512394.1:p.His2892Tyr | |
| XM_011514094.1:c.5899C>T | XP_011512396.1:p.His1967Tyr | |
| XR_427661.2:n.8849C>T | ||
| XR_925644.1:n.8849C>T | ||
| XM_005248345.4:c.8674C>T | XP_005248402.1:p.His2892Tyr | |
| XM_005248346.4:c.8671C>T | XP_005248403.1:p.His2891Tyr | |
| XM_005248347.4:c.8671C>T | XP_005248404.1:p.His2891Tyr | |
| XM_005248349.4:c.8563C>T | XP_005248406.1:p.His2855Tyr | |
| XM_005248350.4:c.8545C>T | XP_005248407.1:p.His2849Tyr | |
| XM_006714491.3:c.3247C>T | XP_006714554.1:p.His1083Tyr | |
| XM_011514085.3:c.8674C>T | XP_011512387.1:p.His2892Tyr | |
| XM_011514086.3:c.8674C>T | XP_011512388.1:p.His2892Tyr | |
| XM_011514087.2:c.8620C>T | XP_011512389.1:p.His2874Tyr | |
| XM_011514088.2:c.8566C>T | XP_011512390.1:p.His2856Tyr | |
| XM_011514089.2:c.8674C>T | XP_011512391.1:p.His2892Tyr | |
| XM_011514090.3:c.8356C>T | XP_011512392.1:p.His2786Tyr | |
| XM_011514092.2:c.8674C>T | XP_011512394.1:p.His2892Tyr | |
| XM_011514094.2:c.5899C>T | XP_011512396.1:p.His1967Tyr | |
| XM_017009760.1:c.8485C>T | XP_016865249.1:p.His2829Tyr | |
| XM_017009761.2:c.8485C>T | XP_016865250.1:p.His2829Tyr | |
| XM_017009763.1:c.7681C>T | XP_016865252.1:p.His2561Tyr | |
| XM_017009765.1:c.7486C>T | XP_016865254.1:p.His2496Tyr | |
| XM_017009766.1:c.5317C>T | XP_016865255.1:p.His1773Tyr | |
| XM_024446183.1:c.8485C>T | XP_024301951.1:p.His2829Tyr | |
| XM_024446184.1:c.8356C>T | XP_024301952.1:p.His2786Tyr | |
| XM_024446185.1:c.8002C>T | XP_024301953.1:p.His2668Tyr | |
| XM_024446186.1:c.7681C>T | XP_024301954.1:p.His2561Tyr | |
| XR_001742208.1:n.8843C>T | ||
| XR_925644.2:n.8898C>T | ||
| NM_001384732.1:c.8674C>T MANE Select | NP_001371661.1:p.His2892Tyr | |
| NM_023073.4:c.8512C>T | NP_075561.3:p.His2838Tyr |