Linked Data
ClinVar Variation Id:
2960
dbSNP Id:
rs80358254
ExAC:
18:21118573 C / A
gnomAD v2:
18-21118573-C-A
gnomAD v3:
18-23538609-C-A
gnomAD v4:
18-23538609-C-A
MyVariant Identifiers:
chr18:g.21118573C>A (hg19)
chr18:g.21118573_21118575delinsACT (hg19)
chr18:g.23538609C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538609C>A , CM000680.2:g.23538609C>A | GRCh38 |
| NC_000018.9:g.21118573C>A , CM000680.1:g.21118573C>A | GRCh37 |
| NC_000018.8:g.19372571C>A | NCBI36 |
| NG_012795.1:g.53009G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.2974G>T MANE Select | ENSP00000269228.4:p.Gly992Trp | |
| ENST00000269228.9:c.2974G>T | ENSP00000269228.4:p.Gly992Trp | |
| ENST00000591051.1:c.2052G>T | ||
| ENST00000591075.1:n.607G>T | ||
| ENST00000591955.1:n.317G>T | ||
| NM_000271.4:c.2974G>T | NP_000262.2:p.Gly992Trp | |
| XM_005258277.1:c.3025G>T | XP_005258334.1:p.Gly1009Trp | |
| XM_005258278.3:c.3025G>T | XP_005258335.1:p.Gly1009Trp | |
| XM_005258279.1:c.2974G>T | XP_005258336.1:p.Gly992Trp | |
| XM_006722479.2:c.3025G>T | XP_006722542.1:p.Gly1009Trp | |
| XM_011526015.1:c.2560G>T | XP_011524317.1:p.Gly854Trp | |
| XM_005258278.5:c.3025G>T | XP_005258335.1:p.Gly1009Trp | |
| XM_005258279.2:c.2974G>T | XP_005258336.1:p.Gly992Trp | |
| XM_006722479.3:c.3025G>T | XP_006722542.1:p.Gly1009Trp | |
| XM_017025784.1:c.3025G>T | XP_016881273.1:p.Gly1009Trp | |
| XM_017025785.1:c.3025G>T | XP_016881274.1:p.Gly1009Trp | |
| XM_017025786.1:c.2974G>T | XP_016881275.1:p.Gly992Trp | |
| XM_017025787.1:c.2974G>T | XP_016881276.1:p.Gly992Trp | |
| NM_000271.5:c.2974G>T MANE Select | NP_000262.2:p.Gly992Trp |