Linked Data
ClinVar Variation Id:
421667
ClinVar RCV Id:
RCV000484242
dbSNP Id:
rs1064795283
COSMIC:
COSM4901472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161895749G>A , CM000667.2:g.161895749G>A | GRCh38 |
| NC_000005.9:g.161322755G>A , CM000667.1:g.161322755G>A | GRCh37 |
| NC_000005.8:g.161255333G>A | NCBI36 |
| NG_011548.1:g.53559G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.940G>A MANE Select | ENSP00000377517.4:p.Asp314Asn | |
| ENST00000635880.1:c.940G>A | ENSP00000489738.1:p.Asp314Asn | |
| ENST00000635916.2:n.2541G>A | ||
| ENST00000636340.1:c.*789G>A | ENSP00000490002.1:n.*789G>A | |
| ENST00000636408.1:n.744G>A | ||
| ENST00000636573.1:c.940G>A | ENSP00000490320.1:p.Asp314Asn | |
| ENST00000637044.1:c.*714G>A | ENSP00000490684.1:n.*714G>A | |
| ENST00000637827.1:c.940G>A | ENSP00000490804.1:p.Asp314Asn | |
| ENST00000638112.1:c.940G>A | ENSP00000489839.1:p.Asp314Asn | |
| ENST00000638159.1:c.985G>A | ENSP00000490360.1:p.Asp329Asn | |
| ENST00000023897.10:c.940G>A | ENSP00000023897.6:p.Asp314Asn | |
| ENST00000393943.9:c.940G>A | ENSP00000377517.4:p.Asp314Asn | |
| ENST00000428797.7:c.940G>A | ENSP00000393097.2:p.Asp314Asn | |
| ENST00000437025.6:c.940G>A | ENSP00000415441.2:p.Asp314Asn | |
| NM_000806.5:c.940G>A | NP_000797.2:p.Asp314Asn | |
| NM_001127643.1:c.940G>A | NP_001121115.1:p.Asp314Asn | |
| NM_001127644.1:c.940G>A | NP_001121116.1:p.Asp314Asn | |
| NM_001127645.1:c.940G>A | NP_001121117.1:p.Asp314Asn | |
| NM_001127648.1:c.940G>A | NP_001121120.1:p.Asp314Asn | |
| NM_001127644.2:c.940G>A MANE Select | NP_001121116.1:p.Asp314Asn | |
| NM_001127643.2:c.940G>A | NP_001121115.1:p.Asp314Asn | |
| NM_001127645.2:c.940G>A | NP_001121117.1:p.Asp314Asn | |
| NM_001127648.2:c.940G>A | NP_001121120.1:p.Asp314Asn |