Linked Data
ClinVar Variation Id:
1078643
dbSNP Id:
rs1311531049
gnomAD v3:
17-31338103-T-C
gnomAD v4:
17-31338103-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31338103T>C , CM000679.2:g.31338103T>C | GRCh38 |
| NC_000017.10:g.29665121T>C , CM000679.1:g.29665121T>C | GRCh37 |
| NC_000017.9:g.26689247T>C | NCBI36 |
| NG_009018.1:g.248127T>C , LRG_214:g.248127T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6765T>C | ENSP00000512431.1:p.His2255= | |
| ENST00000684826.1:c.1347T>C | ENSP00000509994.1:p.His449= | |
| ENST00000684998.1:n.2041T>C | ||
| ENST00000687027.1:c.939T>C | ENSP00000508715.1:p.His313= | |
| ENST00000687863.1:n.3428T>C | ||
| ENST00000691014.1:c.6813T>C | ENSP00000510595.1:p.His2271= | |
| ENST00000693617.1:c.1347T>C | ENSP00000510031.1:p.His449= | |
| ENST00000358273.9:c.6783T>C MANE Select | ENSP00000351015.4:p.His2261= | |
| ENST00000356175.7:c.6720T>C | ENSP00000348498.3:p.His2240= | |
| ENST00000358273.8:c.6783T>C | ENSP00000351015.4:p.His2261= | |
| ENST00000456735.6:c.5718T>C | ENSP00000389907.2:p.His1906= | |
| ENST00000471572.6:c.166T>C | ||
| ENST00000579081.5:c.6919T>C | ENSP00000462408.1:n.6919T>C | |
| ENST00000581790.5:c.64+223T>C | ||
| ENST00000584328.1:n.197T>C | ||
| NM_000267.3:c.6720T>C , LRG_214t1:c.6720T>C | NP_000258.1:p.His2240= | |
| NM_001042492.2:c.6783T>C , LRG_214t2:c.6783T>C | NP_001035957.1:p.His2261= | |
| XM_005257983.1:c.6783T>C | XP_005258040.1:p.His2261= | |
| XM_005257984.1:c.6720T>C | XP_005258041.1:p.His2240= | |
| XM_006721922.1:c.6813T>C | XP_006721985.1:p.His2271= | |
| XM_006721923.2:c.6774T>C | XP_006721986.1:p.His2258= | |
| XM_006721924.1:c.6813T>C | XP_006721987.1:p.His2271= | |
| XM_006721925.1:c.6750T>C | XP_006721988.1:p.His2250= | |
| XM_006721926.2:c.6813T>C | XP_006721989.1:p.His2271= | |
| XM_006721927.1:c.6813T>C | XP_006721990.1:p.His2271= | |
| XM_011524852.1:c.6810T>C | XP_011523154.1:p.His2270= | |
| XM_011524853.1:c.6774T>C | XP_011523155.1:p.His2258= | |
| XM_011524854.1:c.6774T>C | XP_011523156.1:p.His2258= | |
| XM_011524855.1:c.6774T>C | XP_011523157.1:p.His2258= | |
| XM_011524856.1:c.6774T>C | XP_011523158.1:p.His2258= | |
| XM_011524857.1:c.6813T>C | XP_011523159.1:p.His2271= | |
| NM_001042492.3:c.6783T>C MANE Select | NP_001035957.1:p.His2261= |