Linked Data
ClinVar Variation Id:
374097
dbSNP Id:
rs1057518897
gnomAD v3:
16-2103746-C-T
gnomAD v4:
16-2103746-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2103746C>T , CM000678.2:g.2103746C>T | GRCh38 |
| NC_000016.9:g.2153747C>T , CM000678.1:g.2153747C>T | GRCh37 |
| NC_000016.8:g.2093748C>T | NCBI36 |
| NG_008617.1:g.39475G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.8311G>A MANE Select | ENSP00000262304.4:p.Glu2771Lys | |
| ENST00000262304.8:c.8311G>A | ENSP00000262304.4:p.Glu2771Lys | |
| ENST00000415938.7:n.1556G>A | ||
| ENST00000423118.5:c.8311G>A | ENSP00000399501.1:p.Glu2771Lys | |
| ENST00000480227.5:n.48G>A | ||
| ENST00000483731.5:n.2036G>A | ||
| ENST00000486339.6:n.2447G>A | ||
| ENST00000487932.5:c.2998G>A | ENSP00000457132.1:p.Glu1000Lys | |
| ENST00000496574.6:n.2547G>A | ||
| ENST00000561991.5:n.833G>A | ||
| ENST00000562297.5:n.44G>A | ||
| ENST00000567946.1:c.372G>A | ||
| NM_000296.3:c.8311G>A | NP_000287.3:p.Glu2771Lys | |
| NM_001009944.2:c.8311G>A | NP_001009944.2:p.Glu2771Lys | |
| XM_005255370.2:c.5266G>A | XP_005255427.1:p.Glu1756Lys | |
| XM_011522525.1:c.8389G>A | XP_011520827.1:p.Glu2797Lys | |
| XM_011522526.1:c.8389G>A | XP_011520828.1:p.Glu2797Lys | |
| XM_011522527.1:c.8389G>A | XP_011520829.1:p.Glu2797Lys | |
| XM_011522528.1:c.8365G>A | XP_011520830.1:p.Glu2789Lys | |
| XM_011522529.1:c.8365G>A | XP_011520831.1:p.Glu2789Lys | |
| XM_011522530.1:c.8335G>A | XP_011520832.1:p.Glu2779Lys | |
| XM_011522531.1:c.8317G>A | XP_011520833.1:p.Glu2773Lys | |
| XM_011522532.1:c.8263G>A | XP_011520834.1:p.Glu2755Lys | |
| XM_011522533.1:c.8182G>A | XP_011520835.1:p.Glu2728Lys | |
| XM_011522534.1:c.8125G>A | XP_011520836.1:p.Glu2709Lys | |
| XM_011522535.1:c.6211G>A | XP_011520837.1:p.Glu2071Lys | |
| XM_011522536.1:c.8389G>A | XP_011520838.1:p.Glu2797Lys | |
| XM_011522537.1:c.5389G>A | XP_011520839.1:p.Glu1797Lys | |
| XR_932867.1:n.8404G>A | ||
| XR_932868.1:n.8404G>A | ||
| XR_932869.1:n.8404G>A | ||
| XR_932870.1:n.8404G>A | ||
| XM_005255370.3:c.5266G>A | XP_005255427.1:p.Glu1756Lys | |
| XM_011522528.3:c.8365G>A | XP_011520830.1:p.Glu2789Lys | |
| XM_011522529.2:c.8365G>A | XP_011520831.1:p.Glu2789Lys | |
| XM_011522537.2:c.5389G>A | XP_011520839.1:p.Glu1797Lys | |
| XM_024450298.1:c.8431G>A | XP_024306066.1:p.Glu2811Lys | |
| XM_024450299.1:c.8359G>A | XP_024306067.1:p.Glu2787Lys | |
| XM_024450300.1:c.8221G>A | XP_024306068.1:p.Glu2741Lys | |
| XM_024450301.1:c.6307G>A | XP_024306069.1:p.Glu2103Lys | |
| NM_000296.4:c.8311G>A | NP_000287.4:p.Glu2771Lys | |
| NM_001009944.3:c.8311G>A MANE Select | NP_001009944.3:p.Glu2771Lys |