Linked Data
dbSNP Id:
rs1301690715
gnomAD v2:
17-42449579-G-C
gnomAD v3:
17-44372211-G-C
gnomAD v4:
17-44372211-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372211G>C , CM000679.2:g.44372211G>C | GRCh38 |
| NC_000017.10:g.42449579G>C , CM000679.1:g.42449579G>C | GRCh37 |
| NC_000017.9:g.39805105G>C | NCBI36 |
| NG_008331.1:g.22295C>G , LRG_479:g.22295C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*153C>G MANE Select | ENSP00000262407.5:n.*153C>G | |
| ENST00000648408.1:c.2587C>G | ||
| ENST00000262407.5:c.*153C>G | ENSP00000262407.5:n.*153C>G | |
| ENST00000587295.5:c.466C>G | ||
| ENST00000588098.1:c.250C>G | ||
| NM_000419.3:c.*153C>G , LRG_479t1:c.*153C>G | NP_000410.2:n.*153C>G | |
| XM_011524749.1:c.*153C>G | XP_011523051.1:n.*153C>G | |
| XM_011524750.1:c.*153C>G | XP_011523052.1:n.*153C>G | |
| NM_000419.4:c.*153C>G | NP_000410.2:n.*153C>G | |
| NM_000419.5:c.*153C>G MANE Select | NP_000410.2:n.*153C>G |