Linked Data
ClinVar Variation Id:
2970946
ClinVar RCV Id:
RCV003824648
dbSNP Id:
rs1788799
gnomAD v2:
18-21124945-C-A
gnomAD v4:
18-23544981-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23544981C>A , CM000680.2:g.23544981C>A | GRCh38 |
| NC_000018.9:g.21124945C>A , CM000680.1:g.21124945C>A | GRCh37 |
| NC_000018.8:g.19378943C>A | NCBI36 |
| NG_012795.1:g.46637G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.1926G>T MANE Select | ENSP00000269228.4:p.Met642Ile | |
| ENST00000269228.9:c.1926G>T | ENSP00000269228.4:p.Met642Ile | |
| ENST00000540608.5:n.1840G>T | ||
| ENST00000591051.1:c.1004G>T | ||
| NM_000271.4:c.1926G>T | NP_000262.2:p.Met642Ile | |
| XM_005258277.1:c.1977G>T | XP_005258334.1:p.Met659Ile | |
| XM_005258278.3:c.1977G>T | XP_005258335.1:p.Met659Ile | |
| XM_005258279.1:c.1926G>T | XP_005258336.1:p.Met642Ile | |
| XM_006722479.2:c.1977G>T | XP_006722542.1:p.Met659Ile | |
| XM_011526015.1:c.1512G>T | XP_011524317.1:p.Met504Ile | |
| XM_005258278.5:c.1977G>T | XP_005258335.1:p.Met659Ile | |
| XM_005258279.2:c.1926G>T | XP_005258336.1:p.Met642Ile | |
| XM_006722479.3:c.1977G>T | XP_006722542.1:p.Met659Ile | |
| XM_017025784.1:c.1977G>T | XP_016881273.1:p.Met659Ile | |
| XM_017025785.1:c.1977G>T | XP_016881274.1:p.Met659Ile | |
| XM_017025786.1:c.1926G>T | XP_016881275.1:p.Met642Ile | |
| XM_017025787.1:c.1926G>T | XP_016881276.1:p.Met642Ile | |
| NM_000271.5:c.1926G>T MANE Select | NP_000262.2:p.Met642Ile |