Linked Data
ClinVar Variation Id:
448004
ClinVar RCV Id:
RCV000516831
dbSNP Id:
rs201021499
ExAC:
16:2156572 C / T
gnomAD v2:
16-2156572-C-T
gnomAD v3:
16-2106571-C-T
gnomAD v4:
16-2106571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106571C>T , CM000678.2:g.2106571C>T | GRCh38 |
| NC_000016.9:g.2156572C>T , CM000678.1:g.2156572C>T | GRCh37 |
| NC_000016.8:g.2096573C>T | NCBI36 |
| NG_008617.1:g.34328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7316G>A MANE Select | ENSP00000262304.4:p.Arg2439Gln | |
| ENST00000262304.8:c.7316G>A | ENSP00000262304.4:p.Arg2439Gln | |
| ENST00000415938.7:n.561G>A | ||
| ENST00000423118.5:c.7316G>A | ENSP00000399501.1:p.Arg2439Gln | |
| ENST00000483558.5:n.375G>A | ||
| ENST00000483731.5:n.1041G>A | ||
| ENST00000486339.6:n.1062G>A | ||
| ENST00000487932.5:c.2003G>A | ENSP00000457132.1:p.Arg668Gln | |
| ENST00000496574.6:n.1319G>A | ||
| ENST00000565639.6:n.1024G>A | ||
| ENST00000568591.5:c.2477G>A | ENSP00000457162.1:n.2477G>A | |
| ENST00000569983.5:n.672G>A | ||
| NM_000296.3:c.7316G>A | NP_000287.3:p.Arg2439Gln | |
| NM_001009944.2:c.7316G>A | NP_001009944.2:p.Arg2439Gln | |
| XM_005255370.2:c.4271G>A | XP_005255427.1:p.Arg1424Gln | |
| XM_011522525.1:c.7394G>A | XP_011520827.1:p.Arg2465Gln | |
| XM_011522526.1:c.7394G>A | XP_011520828.1:p.Arg2465Gln | |
| XM_011522527.1:c.7394G>A | XP_011520829.1:p.Arg2465Gln | |
| XM_011522528.1:c.7370G>A | XP_011520830.1:p.Arg2457Gln | |
| XM_011522529.1:c.7370G>A | XP_011520831.1:p.Arg2457Gln | |
| XM_011522530.1:c.7340G>A | XP_011520832.1:p.Arg2447Gln | |
| XM_011522531.1:c.7322G>A | XP_011520833.1:p.Arg2441Gln | |
| XM_011522532.1:c.7268G>A | XP_011520834.1:p.Arg2423Gln | |
| XM_011522533.1:c.7187G>A | XP_011520835.1:p.Arg2396Gln | |
| XM_011522534.1:c.7130G>A | XP_011520836.1:p.Arg2377Gln | |
| XM_011522535.1:c.5216G>A | XP_011520837.1:p.Arg1739Gln | |
| XM_011522536.1:c.7394G>A | XP_011520838.1:p.Arg2465Gln | |
| XM_011522537.1:c.4394G>A | XP_011520839.1:p.Arg1465Gln | |
| XR_932867.1:n.7409G>A | ||
| XR_932868.1:n.7409G>A | ||
| XR_932869.1:n.7409G>A | ||
| XR_932870.1:n.7409G>A | ||
| XM_005255370.3:c.4271G>A | XP_005255427.1:p.Arg1424Gln | |
| XM_011522528.3:c.7370G>A | XP_011520830.1:p.Arg2457Gln | |
| XM_011522529.2:c.7370G>A | XP_011520831.1:p.Arg2457Gln | |
| XM_011522537.2:c.4394G>A | XP_011520839.1:p.Arg1465Gln | |
| XM_024450298.1:c.7436G>A | XP_024306066.1:p.Arg2479Gln | |
| XM_024450299.1:c.7364G>A | XP_024306067.1:p.Arg2455Gln | |
| XM_024450300.1:c.7226G>A | XP_024306068.1:p.Arg2409Gln | |
| XM_024450301.1:c.5312G>A | XP_024306069.1:p.Arg1771Gln | |
| NM_000296.4:c.7316G>A | NP_000287.4:p.Arg2439Gln | |
| NM_001009944.3:c.7316G>A MANE Select | NP_001009944.3:p.Arg2439Gln |