Linked Data
ClinVar Variation Id:
255700
dbSNP Id:
rs2510344
ExAC:
18:21113285 T / C
gnomAD v2:
18-21113285-T-C
gnomAD v3:
18-23533321-T-C
gnomAD v4:
18-23533321-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23533321T>C , CM000680.2:g.23533321T>C | GRCh38 |
| NC_000018.9:g.21113285T>C , CM000680.1:g.21113285T>C | GRCh37 |
| NC_000018.8:g.19367283T>C | NCBI36 |
| NG_012795.1:g.58297A>G | |
| NG_033119.1:g.34852T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.3754+34A>G MANE Select | ENSP00000269228.4:n.3754+34A>G | |
| ENST00000269228.9:c.3754+34A>G | ENSP00000269228.4:n.3754+34A>G | |
| ENST00000586150.5:c.509+34A>G | ||
| ENST00000587163.1:n.312A>G | ||
| ENST00000588867.1:n.1437+34A>G | ||
| ENST00000590723.5:c.163+34A>G | ENSP00000464755.1:n.163+34A>G | |
| ENST00000591051.1:c.2832+34A>G | ||
| ENST00000591107.6:c.431+34A>G | ||
| ENST00000593280.2:c.86+34A>G | ||
| NM_000271.4:c.3754+34A>G | NP_000262.2:n.3754+34A>G | |
| XM_005258277.1:c.3805+34A>G | XP_005258334.1:n.3805+34A>G | |
| XM_005258278.3:c.3805+34A>G | XP_005258335.1:n.3805+34A>G | |
| XM_005258279.1:c.3754+34A>G | XP_005258336.1:n.3754+34A>G | |
| XM_006722479.2:c.3805+34A>G | XP_006722542.1:n.3805+34A>G | |
| XM_011526015.1:c.3340+34A>G | XP_011524317.1:n.3340+34A>G | |
| XM_005258278.5:c.3805+34A>G | XP_005258335.1:n.3805+34A>G | |
| XM_005258279.2:c.3754+34A>G | XP_005258336.1:n.3754+34A>G | |
| XM_006722479.3:c.3805+34A>G | XP_006722542.1:n.3805+34A>G | |
| XM_017025784.1:c.3805+34A>G | XP_016881273.1:n.3805+34A>G | |
| XM_017025785.1:c.3805+34A>G | XP_016881274.1:n.3805+34A>G | |
| XM_017025786.1:c.3754+34A>G | XP_016881275.1:n.3754+34A>G | |
| XM_017025787.1:c.3754+34A>G | XP_016881276.1:n.3754+34A>G | |
| NM_000271.5:c.3754+34A>G MANE Select | NP_000262.2:n.3754+34A>G |