Linked Data
ClinVar Variation Id:
337794
dbSNP Id:
rs767683935
ExAC:
20:18513373 G / A
gnomAD v2:
20-18513373-G-A
gnomAD v3:
20-18532729-G-A
gnomAD v4:
20-18532729-G-A
COSMIC:
COSM238148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18532729G>A , CM000682.2:g.18532729G>A | GRCh38 |
| NC_000020.10:g.18513373G>A , CM000682.1:g.18513373G>A | GRCh37 |
| NC_000020.9:g.18461373G>A | NCBI36 |
| NG_016281.1:g.30186G>A | |
| NG_016281.2:g.30248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336714.8:c.1299G>A | ENSP00000338844.3:p.Pro433= | |
| ENST00000377465.6:c.1299G>A | ENSP00000366685.1:p.Pro433= | |
| ENST00000643747.1:c.1245G>A | ENSP00000496460.1:p.Pro415= | |
| ENST00000650089.1:c.1299G>A MANE Select | ENSP00000497473.1:p.Pro433= | |
| ENST00000262544.6:c.1299G>A | ENSP00000262544.2:p.Pro433= | |
| ENST00000336714.7:c.1299G>A | ENSP00000338844.3:p.Pro433= | |
| ENST00000377465.5:c.1299G>A | ENSP00000366685.1:p.Pro433= | |
| ENST00000377475.7:c.1299G>A | ENSP00000366695.3:p.Pro433= | |
| NM_001172745.1:c.1299G>A | NP_001166216.1:p.Pro433= | |
| NM_001172746.1:c.1245G>A | NP_001166217.1:p.Pro415= | |
| NM_006363.4:c.1299G>A | NP_006354.2:p.Pro433= | |
| NM_032985.4:c.1299G>A | NP_116780.1:p.Pro433= | |
| NM_032986.3:c.1299G>A | NP_116781.1:p.Pro433= | |
| NM_001172745.2:c.1299G>A | NP_001166216.1:p.Pro433= | |
| NM_001172746.2:c.1245G>A | NP_001166217.1:p.Pro415= | |
| NM_006363.6:c.1299G>A MANE Select | NP_006354.2:p.Pro433= | |
| NM_032985.5:c.1299G>A | NP_116780.1:p.Pro433= | |
| NM_032986.4:c.1299G>A | NP_116781.1:p.Pro433= | |
| XM_017027593.1:c.1299G>A | XP_016883082.1:p.Pro433= | |
| NM_001172745.3:c.1299G>A | NP_001166216.1:p.Pro433= | |
| NM_001172746.3:c.1245G>A | NP_001166217.1:p.Pro415= | |
| NM_032985.6:c.1299G>A | NP_116780.1:p.Pro433= | |
| NM_032986.5:c.1299G>A | NP_116781.1:p.Pro433= |