Linked Data
dbSNP Id:
rs763888697
ExAC:
16:56368688 C / A
gnomAD v2:
16-56368688-C-A
gnomAD v4:
16-56334776-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334776C>A , CM000678.2:g.56334776C>A | GRCh38 |
| NC_000016.9:g.56368688C>A , CM000678.1:g.56368688C>A | GRCh37 |
| NC_000016.8:g.54926189C>A | NCBI36 |
| NG_042800.1:g.148438C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.512C>A | ENSP00000262494.7:p.Thr171Asn | |
| ENST00000262493.12:c.512C>A MANE Select | ENSP00000262493.6:p.Thr171Asn | |
| ENST00000262494.12:c.512C>A | ENSP00000262494.7:p.Thr171Asn | |
| ENST00000562316.6:c.179C>A | ENSP00000457238.2:p.Thr60Asn | |
| ENST00000638185.1:n.727C>A | ||
| ENST00000638210.1:n.812C>A | ||
| ENST00000638705.1:c.512C>A | ENSP00000491223.1:p.Thr171Asn | |
| ENST00000638836.1:n.422C>A | ||
| ENST00000639055.1:n.1233C>A | ||
| ENST00000639251.1:n.413C>A | ||
| ENST00000639268.1:c.229-1955C>A | ||
| ENST00000639341.1:c.37C>A | ||
| ENST00000639770.1:c.550C>A | ENSP00000491999.1:n.550C>A | |
| ENST00000640390.1:n.442C>A | ||
| ENST00000640893.1:c.351C>A | ENSP00000492677.1:p.His117Gln | |
| ENST00000262493.10:c.512C>A | ENSP00000262493.6:p.Thr171Asn | |
| ENST00000262494.11:c.512C>A | ENSP00000262494.7:p.Thr171Asn | |
| ENST00000562316.5:c.251C>A | ENSP00000457238.1:p.Thr84Asn | |
| ENST00000565363.5:c.386C>A | ||
| NM_020988.2:c.512C>A | NP_066268.1:p.Thr171Asn | |
| NM_138736.2:c.512C>A | NP_620073.2:p.Thr171Asn | |
| XM_011523003.1:c.386C>A | XP_011521305.1:p.Thr129Asn | |
| XM_011523003.3:c.386C>A | XP_011521305.1:p.Thr129Asn | |
| NM_020988.3:c.512C>A MANE Select | NP_066268.1:p.Thr171Asn | |
| NM_138736.3:c.512C>A | NP_620073.2:p.Thr171Asn |