Linked Data
ClinVar Variation Id:
2834990
ClinVar RCV Id:
RCV003686919
MyVariant Identifiers:
chr5:g.79950582T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80654763T>G , CM000667.2:g.80654763T>G | GRCh38 |
| NC_000005.9:g.79950582T>G , CM000667.1:g.79950582T>G | GRCh37 |
| NC_000005.8:g.79986338T>G | NCBI36 |
| NG_016607.1:g.5289T>G | |
| NG_023304.1:g.5219A>C | |
| NG_016607.2:g.5289T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.36T>G (MSH3) MANE Select | ENSP00000265081.6:p.Ala12= | |
| ENST00000439211.7:c.-274A>C (DHFR) MANE Select | ENSP00000396308.2:n.-274A>C | |
| ENST00000667069.1:c.36T>G (MSH3) | ENSP00000499502.1:p.Ala12= | |
| ENST00000670357.1:c.36T>G (MSH3) | ENSP00000499791.1:p.Ala12= | |
| ENST00000265081.6:c.36T>G (MSH3) | ENSP00000265081.6:p.Ala12= | |
| ENST00000439211.6:c.-274A>C (DHFR) | ENSP00000396308.2:n.-274A>C | |
| NM_000791.3:c.-274A>C (DHFR) | NP_000782.1:n.-274A>C | |
| NM_001290354.1:c.-380A>C (DHFR) | NP_001277283.1:n.-380A>C | |
| NM_001290357.1:c.-274A>C (DHFR) | NP_001277286.1:n.-274A>C | |
| NM_002439.4:c.36T>G (MSH3) | NP_002430.3:p.Ala12= | |
| NR_110936.1:n.219A>C (DHFR) | ||
| NM_000791.4:c.-274A>C (DHFR) MANE Select | NP_000782.1:n.-274A>C | |
| NM_002439.5:c.36T>G (MSH3) MANE Select | NP_002430.3:p.Ala12= | |
| NM_001290354.2:c.-380A>C (DHFR) | NP_001277283.1:n.-380A>C | |
| NM_001290357.2:c.-274A>C (DHFR) | NP_001277286.1:n.-274A>C | |
| NR_110936.2:n.221A>C (DHFR) |