Linked Data
ClinVar Variation Id:
1362549
ClinVar RCV Id:
RCV001900216
dbSNP Id:
rs763053362
ExAC:
16:56370772 G / A
gnomAD v2:
16-56370772-G-A
gnomAD v3:
16-56336860-G-A
gnomAD v4:
16-56336860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336860G>A , CM000678.2:g.56336860G>A | GRCh38 |
| NC_000016.9:g.56370772G>A , CM000678.1:g.56370772G>A | GRCh37 |
| NC_000016.8:g.54928273G>A | NCBI36 |
| NG_042800.1:g.150522G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.723G>A | ENSP00000262494.7:p.Thr241= | |
| ENST00000262493.12:c.723G>A MANE Select | ENSP00000262493.6:p.Thr241= | |
| ENST00000262494.12:c.723G>A | ENSP00000262494.7:p.Thr241= | |
| ENST00000562316.6:c.390G>A | ENSP00000457238.2:p.Thr130= | |
| ENST00000564727.2:c.27G>A | ENSP00000454971.2:p.Thr9= | |
| ENST00000568375.2:c.115G>A | ||
| ENST00000638185.1:n.938G>A | ||
| ENST00000638210.1:n.1023G>A | ||
| ENST00000638705.1:c.723G>A | ENSP00000491223.1:p.Thr241= | |
| ENST00000638836.1:n.633G>A | ||
| ENST00000639055.1:n.1444G>A | ||
| ENST00000639251.1:n.624G>A | ||
| ENST00000639268.1:c.358G>A | ||
| ENST00000639341.1:c.248G>A | ||
| ENST00000639770.1:c.761G>A | ENSP00000491999.1:n.761G>A | |
| ENST00000640390.1:n.653G>A | ||
| ENST00000640469.1:c.87G>A | ENSP00000491875.1:p.Thr29= | |
| ENST00000640560.1:n.499G>A | ||
| ENST00000640893.1:c.*121G>A | ENSP00000492677.1:n.*121G>A | |
| ENST00000262493.10:c.723G>A | ENSP00000262493.6:p.Thr241= | |
| ENST00000262494.11:c.723G>A | ENSP00000262494.7:p.Thr241= | |
| ENST00000568375.1:n.115G>A | ||
| NM_020988.2:c.723G>A | NP_066268.1:p.Thr241= | |
| NM_138736.2:c.723G>A | NP_620073.2:p.Thr241= | |
| XM_011523003.1:c.597G>A | XP_011521305.1:p.Thr199= | |
| XM_011523003.3:c.597G>A | XP_011521305.1:p.Thr199= | |
| NM_020988.3:c.723G>A MANE Select | NP_066268.1:p.Thr241= | |
| NM_138736.3:c.723G>A | NP_620073.2:p.Thr241= |