Linked Data
ClinVar Variation Id:
1305308
ClinVar RCV Id:
RCV001768515
dbSNP Id:
rs1242244215
gnomAD v2:
X-67283838-C-A
gnomAD v3:
X-68063996-C-A
gnomAD v4:
X-68063996-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68063996C>A , CM000685.2:g.68063996C>A | GRCh38 |
| NC_000023.10:g.67283838C>A , CM000685.1:g.67283838C>A | GRCh37 |
| NC_000023.9:g.67200563C>A | NCBI36 |
| NG_008960.1:g.374462G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355520.6:c.2016G>T MANE Select | ENSP00000347710.5:p.Lys672Asn | |
| ENST00000679748.1:c.1834+9156G>T | ENSP00000505800.1:n.1834+9156G>T | |
| ENST00000679822.1:c.1834+9156G>T | ENSP00000505810.1:n.1834+9156G>T | |
| ENST00000680592.1:n.1522G>T | ||
| ENST00000680612.1:c.1686+32874G>T | ENSP00000505365.1:n.1686+32874G>T | |
| ENST00000681408.1:c.1911G>T | ENSP00000506619.1:p.Lys637Asn | |
| ENST00000355520.5:c.2016G>T | ENSP00000347710.5:p.Lys672Asn | |
| ENST00000484842.1:n.632G>T | ||
| NM_002547.2:c.2016G>T | NP_002538.1:p.Lys672Asn | |
| XM_005262270.1:c.1834+9156G>T | XP_005262327.1:n.1834+9156G>T | |
| XM_006724653.1:c.2016G>T | XP_006724716.1:p.Lys672Asn | |
| XM_011530961.1:c.2016G>T | XP_011529263.1:p.Lys672Asn | |
| XM_006724653.2:c.2016G>T | XP_006724716.1:p.Lys672Asn | |
| NM_002547.3:c.2016G>T MANE Select | NP_002538.1:p.Lys672Asn |