Linked Data
ClinVar Variation Id:
1026548
ClinVar RCV Id:
RCV001327013
dbSNP Id:
rs2058666849
gnomAD v4:
18-23538582-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538582T>C , CM000680.2:g.23538582T>C | GRCh38 |
| NC_000018.9:g.21118546T>C , CM000680.1:g.21118546T>C | GRCh37 |
| NC_000018.8:g.19372544T>C | NCBI36 |
| NG_012795.1:g.53036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3001A>G MANE Select | ENSP00000269228.4:p.Met1001Val | |
| ENST00000269228.9:c.3001A>G | ENSP00000269228.4:p.Met1001Val | |
| ENST00000591051.1:c.2079A>G | ||
| ENST00000591075.1:n.634A>G | ||
| ENST00000591955.1:n.344A>G | ||
| NM_000271.4:c.3001A>G | NP_000262.2:p.Met1001Val | |
| XM_005258277.1:c.3052A>G | XP_005258334.1:p.Met1018Val | |
| XM_005258278.3:c.3052A>G | XP_005258335.1:p.Met1018Val | |
| XM_005258279.1:c.3001A>G | XP_005258336.1:p.Met1001Val | |
| XM_006722479.2:c.3052A>G | XP_006722542.1:p.Met1018Val | |
| XM_011526015.1:c.2587A>G | XP_011524317.1:p.Met863Val | |
| XM_005258278.5:c.3052A>G | XP_005258335.1:p.Met1018Val | |
| XM_005258279.2:c.3001A>G | XP_005258336.1:p.Met1001Val | |
| XM_006722479.3:c.3052A>G | XP_006722542.1:p.Met1018Val | |
| XM_017025784.1:c.3052A>G | XP_016881273.1:p.Met1018Val | |
| XM_017025785.1:c.3052A>G | XP_016881274.1:p.Met1018Val | |
| XM_017025786.1:c.3001A>G | XP_016881275.1:p.Met1001Val | |
| XM_017025787.1:c.3001A>G | XP_016881276.1:p.Met1001Val | |
| NM_000271.5:c.3001A>G MANE Select | NP_000262.2:p.Met1001Val |