Linked Data
ClinVar Variation Id:
440113
ClinVar RCV Id:
RCV000507647
dbSNP Id:
rs375993328
ExAC:
16:2153908 C / T
gnomAD v2:
16-2153908-C-T
gnomAD v3:
16-2103907-C-T
gnomAD v4:
16-2103907-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2103907C>T , CM000678.2:g.2103907C>T | GRCh38 |
| NC_000016.9:g.2153908C>T , CM000678.1:g.2153908C>T | GRCh37 |
| NC_000016.8:g.2093909C>T | NCBI36 |
| NG_008617.1:g.39314G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.8162-12G>A MANE Select | ENSP00000262304.4:n.8162-12G>A | |
| ENST00000262304.8:c.8162-12G>A | ENSP00000262304.4:n.8162-12G>A | |
| ENST00000415938.7:n.1407-12G>A | ||
| ENST00000423118.5:c.8162-12G>A | ENSP00000399501.1:n.8162-12G>A | |
| ENST00000483731.5:n.1887-12G>A | ||
| ENST00000486339.6:n.2298-12G>A | ||
| ENST00000487932.5:c.2849-12G>A | ENSP00000457132.1:n.2849-12G>A | |
| ENST00000496574.6:n.2398-12G>A | ||
| ENST00000561991.5:n.684-12G>A | ||
| ENST00000565639.6:n.1870-12G>A | ||
| ENST00000567946.1:c.223-12G>A | ||
| NM_000296.3:c.8162-12G>A | NP_000287.3:n.8162-12G>A | |
| NM_001009944.2:c.8162-12G>A | NP_001009944.2:n.8162-12G>A | |
| XM_005255370.2:c.5117-12G>A | XP_005255427.1:n.5117-12G>A | |
| XM_011522525.1:c.8240-12G>A | XP_011520827.1:n.8240-12G>A | |
| XM_011522526.1:c.8240-12G>A | XP_011520828.1:n.8240-12G>A | |
| XM_011522527.1:c.8240-12G>A | XP_011520829.1:n.8240-12G>A | |
| XM_011522528.1:c.8216-12G>A | XP_011520830.1:n.8216-12G>A | |
| XM_011522529.1:c.8216-12G>A | XP_011520831.1:n.8216-12G>A | |
| XM_011522530.1:c.8186-12G>A | XP_011520832.1:n.8186-12G>A | |
| XM_011522531.1:c.8168-12G>A | XP_011520833.1:n.8168-12G>A | |
| XM_011522532.1:c.8114-12G>A | XP_011520834.1:n.8114-12G>A | |
| XM_011522533.1:c.8033-12G>A | XP_011520835.1:n.8033-12G>A | |
| XM_011522534.1:c.7976-12G>A | XP_011520836.1:n.7976-12G>A | |
| XM_011522535.1:c.6062-12G>A | XP_011520837.1:n.6062-12G>A | |
| XM_011522536.1:c.8240-12G>A | XP_011520838.1:n.8240-12G>A | |
| XM_011522537.1:c.5240-12G>A | XP_011520839.1:n.5240-12G>A | |
| XR_932867.1:n.8255-12G>A | ||
| XR_932868.1:n.8255-12G>A | ||
| XR_932869.1:n.8255-12G>A | ||
| XR_932870.1:n.8255-12G>A | ||
| XM_005255370.3:c.5117-12G>A | XP_005255427.1:n.5117-12G>A | |
| XM_011522528.3:c.8216-12G>A | XP_011520830.1:n.8216-12G>A | |
| XM_011522529.2:c.8216-12G>A | XP_011520831.1:n.8216-12G>A | |
| XM_011522537.2:c.5240-12G>A | XP_011520839.1:n.5240-12G>A | |
| XM_024450298.1:c.8282-12G>A | XP_024306066.1:n.8282-12G>A | |
| XM_024450299.1:c.8210-12G>A | XP_024306067.1:n.8210-12G>A | |
| XM_024450300.1:c.8072-12G>A | XP_024306068.1:n.8072-12G>A | |
| XM_024450301.1:c.6158-12G>A | XP_024306069.1:n.6158-12G>A | |
| NM_000296.4:c.8162-12G>A | NP_000287.4:n.8162-12G>A | |
| NM_001009944.3:c.8162-12G>A MANE Select | NP_001009944.3:n.8162-12G>A |