Linked Data
dbSNP Id:
rs780507908
gnomAD v2:
16-2165415-G-T
gnomAD v3:
16-2115414-G-T
gnomAD v4:
16-2115414-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2115414G>T , CM000678.2:g.2115414G>T | GRCh38 |
| NC_000016.9:g.2165415G>T , CM000678.1:g.2165415G>T | GRCh37 |
| NC_000016.8:g.2105416G>T | NCBI36 |
| NG_008617.1:g.25485C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.2061C>A MANE Select | ENSP00000262304.4:p.Leu687= | |
| ENST00000262304.8:c.2061C>A | ENSP00000262304.4:p.Leu687= | |
| ENST00000423118.5:c.2061C>A | ENSP00000399501.1:p.Leu687= | |
| ENST00000488185.2:c.472+2075C>A | ||
| ENST00000568591.5:c.992C>A | ENSP00000457162.1:n.992C>A | |
| NM_000296.3:c.2061C>A | NP_000287.3:p.Leu687= | |
| NM_001009944.2:c.2061C>A | NP_001009944.2:p.Leu687= | |
| XM_011522525.1:c.2115C>A | XP_011520827.1:p.Leu705= | |
| XM_011522526.1:c.2115C>A | XP_011520828.1:p.Leu705= | |
| XM_011522527.1:c.2115C>A | XP_011520829.1:p.Leu705= | |
| XM_011522528.1:c.2115C>A | XP_011520830.1:p.Leu705= | |
| XM_011522529.1:c.2115C>A | XP_011520831.1:p.Leu705= | |
| XM_011522530.1:c.2061C>A | XP_011520832.1:p.Leu687= | |
| XM_011522531.1:c.2043C>A | XP_011520833.1:p.Leu681= | |
| XM_011522532.1:c.1989C>A | XP_011520834.1:p.Leu663= | |
| XM_011522533.1:c.1908C>A | XP_011520835.1:p.Leu636= | |
| XM_011522534.1:c.1851C>A | XP_011520836.1:p.Leu617= | |
| XM_011522536.1:c.2115C>A | XP_011520838.1:p.Leu705= | |
| XR_932867.1:n.2130C>A | ||
| XR_932868.1:n.2130C>A | ||
| XR_932869.1:n.2130C>A | ||
| XR_932870.1:n.2130C>A | ||
| XM_011522528.3:c.2115C>A | XP_011520830.1:p.Leu705= | |
| XM_011522529.2:c.2115C>A | XP_011520831.1:p.Leu705= | |
| XM_024450298.1:c.2061C>A | XP_024306066.1:p.Leu687= | |
| XM_024450299.1:c.1989C>A | XP_024306067.1:p.Leu663= | |
| XM_024450300.1:c.1851C>A | XP_024306068.1:p.Leu617= | |
| NM_000296.4:c.2061C>A | NP_000287.4:p.Leu687= | |
| NM_001009944.3:c.2061C>A MANE Select | NP_001009944.3:p.Leu687= |