Linked Data
ClinVar Variation Id:
2009420
ClinVar RCV Id:
RCV002838396
dbSNP Id:
rs1473029048
gnomAD v2:
6-131904918-C-T
gnomAD v4:
6-131583778-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583778C>T , CM000668.2:g.131583778C>T | GRCh38 |
| NC_000006.11:g.131904918C>T , CM000668.1:g.131904918C>T | GRCh37 |
| NC_000006.10:g.131946611C>T | NCBI36 |
| NG_007086.2:g.15554C>T | |
| NG_031860.1:g.49446G>A | |
| NG_031860.2:g.49446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.839C>T (ARG1) MANE Select | ENSP00000357066.3:p.Pro280Leu | |
| ENST00000640973.1:c.605-24C>T (ARG1) | ENSP00000492623.1:n.605-24C>T | |
| ENST00000672233.1:c.785C>T (ARG1) | ENSP00000499826.1:p.Pro262Leu | |
| ENST00000673234.1:c.*726C>T (ARG1) | ENSP00000499885.1:n.*726C>T | |
| ENST00000673427.1:c.584C>T (ARG1) | ENSP00000500160.1:p.Pro195Leu | |
| ENST00000354577.8:c.4095+3931G>A (MED23) | ENSP00000346588.4:n.4095+3931G>A | |
| ENST00000356962.2:c.863C>T (ARG1) | ENSP00000349446.2:p.Pro288Leu | |
| ENST00000368087.7:c.839C>T (ARG1) | ENSP00000357066.3:p.Pro280Leu | |
| NM_000045.3:c.839C>T (ARG1) | NP_000036.2:p.Pro280Leu | |
| NM_001244438.1:c.863C>T (ARG1) | NP_001231367.1:p.Pro288Leu | |
| NM_001270521.1:c.4077+3931G>A (MED23) | NP_001257450.1:n.4077+3931G>A | |
| NM_015979.3:c.4095+3931G>A (MED23) | NP_057063.2:n.4095+3931G>A | |
| XM_011535801.1:c.584C>T (ARG1) | XP_011534103.1:p.Pro195Leu | |
| XM_011535801.2:c.584C>T (ARG1) | XP_011534103.1:p.Pro195Leu | |
| NM_000045.4:c.839C>T (ARG1) MANE Select | NP_000036.2:p.Pro280Leu | |
| NM_001244438.2:c.863C>T (ARG1) | NP_001231367.1:p.Pro288Leu | |
| NM_001270521.2:c.4077+3931G>A (MED23) | NP_001257450.1:n.4077+3931G>A | |
| NM_001369020.1:c.584C>T (ARG1) | NP_001355949.1:p.Pro195Leu | |
| NM_015979.4:c.4095+3931G>A (MED23) | NP_057063.2:n.4095+3931G>A | |
| NR_160934.1:n.823C>T (ARG1) |