Linked Data
dbSNP Id:
rs374411154
ExAC:
18:21118673 G / C
gnomAD v2:
18-21118673-G-C
gnomAD v3:
18-23538709-G-C
gnomAD v4:
18-23538709-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538709G>C , CM000680.2:g.23538709G>C | GRCh38 |
| NC_000018.9:g.21118673G>C , CM000680.1:g.21118673G>C | GRCh37 |
| NC_000018.8:g.19372671G>C | NCBI36 |
| NG_012795.1:g.52909C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2912-38C>G MANE Select | ENSP00000269228.4:n.2912-38C>G | |
| ENST00000269228.9:c.2912-38C>G | ENSP00000269228.4:n.2912-38C>G | |
| ENST00000591051.1:c.1990-38C>G | ||
| ENST00000591075.1:n.545-38C>G | ||
| ENST00000591955.1:n.217C>G | ||
| NM_000271.4:c.2912-38C>G | NP_000262.2:n.2912-38C>G | |
| XM_005258277.1:c.2963-38C>G | XP_005258334.1:n.2963-38C>G | |
| XM_005258278.3:c.2963-38C>G | XP_005258335.1:n.2963-38C>G | |
| XM_005258279.1:c.2912-38C>G | XP_005258336.1:n.2912-38C>G | |
| XM_006722479.2:c.2963-38C>G | XP_006722542.1:n.2963-38C>G | |
| XM_011526015.1:c.2498-38C>G | XP_011524317.1:n.2498-38C>G | |
| XM_005258278.5:c.2963-38C>G | XP_005258335.1:n.2963-38C>G | |
| XM_005258279.2:c.2912-38C>G | XP_005258336.1:n.2912-38C>G | |
| XM_006722479.3:c.2963-38C>G | XP_006722542.1:n.2963-38C>G | |
| XM_017025784.1:c.2963-38C>G | XP_016881273.1:n.2963-38C>G | |
| XM_017025785.1:c.2963-38C>G | XP_016881274.1:n.2963-38C>G | |
| XM_017025786.1:c.2912-38C>G | XP_016881275.1:n.2912-38C>G | |
| XM_017025787.1:c.2912-38C>G | XP_016881276.1:n.2912-38C>G | |
| NM_000271.5:c.2912-38C>G MANE Select | NP_000262.2:n.2912-38C>G |