Linked Data
dbSNP Id:
rs753878112
ExAC:
16:2156636 C / T
gnomAD v2:
16-2156636-C-T
gnomAD v4:
16-2106635-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106635C>T , CM000678.2:g.2106635C>T | GRCh38 |
| NC_000016.9:g.2156636C>T , CM000678.1:g.2156636C>T | GRCh37 |
| NC_000016.8:g.2096637C>T | NCBI36 |
| NG_008617.1:g.34264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7252G>A MANE Select | ENSP00000262304.4:p.Asp2418Asn | |
| ENST00000262304.8:c.7252G>A | ENSP00000262304.4:p.Asp2418Asn | |
| ENST00000415938.7:n.497G>A | ||
| ENST00000423118.5:c.7252G>A | ENSP00000399501.1:p.Asp2418Asn | |
| ENST00000483024.1:c.420G>A | ||
| ENST00000483558.5:n.311G>A | ||
| ENST00000483731.5:n.977G>A | ||
| ENST00000486339.6:n.998G>A | ||
| ENST00000487932.5:c.1939G>A | ENSP00000457132.1:p.Asp647Asn | |
| ENST00000496574.6:n.1255G>A | ||
| ENST00000565639.6:n.960G>A | ||
| ENST00000568591.5:c.2413G>A | ENSP00000457162.1:n.2413G>A | |
| ENST00000569983.5:n.608G>A | ||
| NM_000296.3:c.7252G>A | NP_000287.3:p.Asp2418Asn | |
| NM_001009944.2:c.7252G>A | NP_001009944.2:p.Asp2418Asn | |
| XM_005255370.2:c.4207G>A | XP_005255427.1:p.Asp1403Asn | |
| XM_011522525.1:c.7330G>A | XP_011520827.1:p.Asp2444Asn | |
| XM_011522526.1:c.7330G>A | XP_011520828.1:p.Asp2444Asn | |
| XM_011522527.1:c.7330G>A | XP_011520829.1:p.Asp2444Asn | |
| XM_011522528.1:c.7306G>A | XP_011520830.1:p.Asp2436Asn | |
| XM_011522529.1:c.7306G>A | XP_011520831.1:p.Asp2436Asn | |
| XM_011522530.1:c.7276G>A | XP_011520832.1:p.Asp2426Asn | |
| XM_011522531.1:c.7258G>A | XP_011520833.1:p.Asp2420Asn | |
| XM_011522532.1:c.7204G>A | XP_011520834.1:p.Asp2402Asn | |
| XM_011522533.1:c.7123G>A | XP_011520835.1:p.Asp2375Asn | |
| XM_011522534.1:c.7066G>A | XP_011520836.1:p.Asp2356Asn | |
| XM_011522535.1:c.5152G>A | XP_011520837.1:p.Asp1718Asn | |
| XM_011522536.1:c.7330G>A | XP_011520838.1:p.Asp2444Asn | |
| XM_011522537.1:c.4330G>A | XP_011520839.1:p.Asp1444Asn | |
| XR_932867.1:n.7345G>A | ||
| XR_932868.1:n.7345G>A | ||
| XR_932869.1:n.7345G>A | ||
| XR_932870.1:n.7345G>A | ||
| XM_005255370.3:c.4207G>A | XP_005255427.1:p.Asp1403Asn | |
| XM_011522528.3:c.7306G>A | XP_011520830.1:p.Asp2436Asn | |
| XM_011522529.2:c.7306G>A | XP_011520831.1:p.Asp2436Asn | |
| XM_011522537.2:c.4330G>A | XP_011520839.1:p.Asp1444Asn | |
| XM_024450298.1:c.7372G>A | XP_024306066.1:p.Asp2458Asn | |
| XM_024450299.1:c.7300G>A | XP_024306067.1:p.Asp2434Asn | |
| XM_024450300.1:c.7162G>A | XP_024306068.1:p.Asp2388Asn | |
| XM_024450301.1:c.5248G>A | XP_024306069.1:p.Asp1750Asn | |
| NM_000296.4:c.7252G>A | NP_000287.4:p.Asp2418Asn | |
| NM_001009944.3:c.7252G>A MANE Select | NP_001009944.3:p.Asp2418Asn |