Linked Data
ClinVar Variation Id:
358872
dbSNP Id:
rs147882304
ExAC:
7:128034551 G / A
gnomAD v2:
7-128034551-G-A
gnomAD v3:
7-128394497-G-A
gnomAD v4:
7-128394497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128394497G>A , CM000669.2:g.128394497G>A | GRCh38 |
| NC_000007.13:g.128034551G>A , CM000669.1:g.128034551G>A | GRCh37 |
| NC_000007.12:g.127821787G>A | NCBI36 |
| NG_009194.1:g.20486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.1545C>T | ENSP00000265385.8:p.His515= | |
| ENST00000484496.6:n.1528C>T | ||
| ENST00000338791.11:c.1653C>T MANE Select | ENSP00000345096.6:p.His551= | |
| ENST00000648462.1:c.1285C>T | ||
| ENST00000338791.10:c.1653C>T | ENSP00000345096.6:p.His551= | |
| ENST00000348127.10:c.1545C>T | ENSP00000265385.8:p.His515= | |
| ENST00000354269.9:c.1623C>T | ENSP00000346219.5:p.His541= | |
| ENST00000419067.6:c.1554C>T | ENSP00000399400.2:p.His518= | |
| ENST00000460045.1:n.543C>T | ||
| ENST00000469328.5:c.1418C>T | ||
| ENST00000470772.5:c.1395C>T | ENSP00000417296.1:p.His465= | |
| ENST00000480861.5:c.1383C>T | ENSP00000420185.1:p.His461= | |
| ENST00000484496.5:c.1528C>T | ENSP00000418742.1:n.1528C>T | |
| ENST00000496200.5:c.1323C>T | ENSP00000420803.1:p.His441= | |
| ENST00000626419.2:c.1395C>T | ENSP00000486056.1:p.His465= | |
| NM_000883.3:c.1653C>T | NP_000874.2:p.His551= | |
| NM_001102605.1:c.1623C>T | NP_001096075.1:p.His541= | |
| NM_001142573.1:c.1398C>T | NP_001136045.1:p.His466= | |
| NM_001142574.1:c.1383C>T | NP_001136046.1:p.His461= | |
| NM_001142575.1:c.1323C>T | NP_001136047.1:p.His441= | |
| NM_001142576.1:c.1554C>T | NP_001136048.1:p.His518= | |
| NM_001304521.1:c.1446C>T | NP_001291450.1:p.His482= | |
| NM_183243.2:c.1545C>T | NP_899066.1:p.His515= | |
| XM_005250314.1:c.1422C>T | XP_005250371.1:p.His474= | |
| XM_006715967.1:c.1653C>T | XP_006716030.1:p.His551= | |
| XM_006715968.1:c.1623C>T | XP_006716031.1:p.His541= | |
| XM_006715969.1:c.1545C>T | XP_006716032.1:p.His515= | |
| XM_006715970.2:c.1446C>T | XP_006716033.1:p.His482= | |
| XM_006715971.1:c.1422C>T | XP_006716034.1:p.His474= | |
| XM_011516156.1:c.1035C>T | XP_011514458.1:p.His345= | |
| XM_011516157.1:c.1035C>T | XP_011514459.1:p.His345= | |
| XM_017012172.1:c.1422C>T | XP_016867661.1:p.His474= | |
| XM_024446755.1:c.1623C>T | XP_024302523.1:p.His541= | |
| XM_024446756.1:c.1545C>T | XP_024302524.1:p.His515= | |
| XM_024446757.1:c.1446C>T | XP_024302525.1:p.His482= | |
| XM_024446758.1:c.1422C>T | XP_024302526.1:p.His474= | |
| NM_000883.4:c.1653C>T MANE Select | NP_000874.2:p.His551= | |
| NM_001102605.2:c.1623C>T | NP_001096075.1:p.His541= | |
| NM_001142573.2:c.1398C>T | NP_001136045.1:p.His466= | |
| NM_001142574.2:c.1383C>T | NP_001136046.1:p.His461= | |
| NM_001142575.2:c.1323C>T | NP_001136047.1:p.His441= | |
| NM_001142576.2:c.1554C>T | NP_001136048.1:p.His518= | |
| NM_001304521.2:c.1446C>T | NP_001291450.1:p.His482= | |
| NM_183243.3:c.1545C>T | NP_899066.1:p.His515= |