Linked Data
ClinVar Variation Id:
2160223
ClinVar RCV Id:
RCV003087579
dbSNP Id:
rs532943866
ExAC:
6:131904958 G / C
gnomAD v2:
6-131904958-G-C
gnomAD v3:
6-131583818-G-C
gnomAD v4:
6-131583818-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583818G>C , CM000668.2:g.131583818G>C | GRCh38 |
| NC_000006.11:g.131904958G>C , CM000668.1:g.131904958G>C | GRCh37 |
| NC_000006.10:g.131946651G>C | NCBI36 |
| NG_007086.2:g.15594G>C | |
| NG_031860.1:g.49406C>G | |
| NG_031860.2:g.49406C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.879G>C (ARG1) MANE Select | ENSP00000357066.3:p.Val293= | |
| ENST00000640973.1:c.621G>C (ARG1) | ENSP00000492623.1:p.Val207= | |
| ENST00000672233.1:c.825G>C (ARG1) | ENSP00000499826.1:p.Val275= | |
| ENST00000673234.1:c.*766G>C (ARG1) | ENSP00000499885.1:n.*766G>C | |
| ENST00000673427.1:c.624G>C (ARG1) | ENSP00000500160.1:p.Val208= | |
| ENST00000354577.8:c.4095+3891C>G (MED23) | ENSP00000346588.4:n.4095+3891C>G | |
| ENST00000356962.2:c.903G>C (ARG1) | ENSP00000349446.2:p.Val301= | |
| ENST00000368087.7:c.879G>C (ARG1) | ENSP00000357066.3:p.Val293= | |
| NM_000045.3:c.879G>C (ARG1) | NP_000036.2:p.Val293= | |
| NM_001244438.1:c.903G>C (ARG1) | NP_001231367.1:p.Val301= | |
| NM_001270521.1:c.4077+3891C>G (MED23) | NP_001257450.1:n.4077+3891C>G | |
| NM_015979.3:c.4095+3891C>G (MED23) | NP_057063.2:n.4095+3891C>G | |
| XM_011535801.1:c.624G>C (ARG1) | XP_011534103.1:p.Val208= | |
| XM_011535801.2:c.624G>C (ARG1) | XP_011534103.1:p.Val208= | |
| NM_000045.4:c.879G>C (ARG1) MANE Select | NP_000036.2:p.Val293= | |
| NM_001244438.2:c.903G>C (ARG1) | NP_001231367.1:p.Val301= | |
| NM_001270521.2:c.4077+3891C>G (MED23) | NP_001257450.1:n.4077+3891C>G | |
| NM_001369020.1:c.624G>C (ARG1) | NP_001355949.1:p.Val208= | |
| NM_015979.4:c.4095+3891C>G (MED23) | NP_057063.2:n.4095+3891C>G | |
| NR_160934.1:n.863G>C (ARG1) |