Linked Data
ClinVar Variation Id:
217250
dbSNP Id:
rs758647756
ExAC:
17:48244791 C / T
gnomAD v2:
17-48244791-C-T
gnomAD v3:
17-50167430-C-T
gnomAD v4:
17-50167430-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50167430C>T , CM000679.2:g.50167430C>T | GRCh38 |
| NC_000017.10:g.48244791C>T , CM000679.1:g.48244791C>T | GRCh37 |
| NC_000017.9:g.45599790C>T | NCBI36 |
| NG_008889.1:g.6426C>T , LRG_203:g.6426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.100C>T | ENSP00000422030.2:p.Arg34Cys | |
| ENST00000511303.6:n.38-517C>T | ||
| ENST00000512526.2:c.100C>T | ENSP00000426606.2:p.Arg34Cys | |
| ENST00000682109.1:c.38-152C>T | ENSP00000508041.1:n.38-152C>T | |
| ENST00000683294.1:c.100C>T | ENSP00000508134.1:p.Arg34Cys | |
| ENST00000262018.8:c.100C>T MANE Select | ENSP00000262018.3:p.Arg34Cys | |
| ENST00000262018.7:c.100C>T | ENSP00000262018.3:p.Arg34Cys | |
| ENST00000344627.10:c.100C>T | ENSP00000345522.6:p.Arg34Cys | |
| ENST00000502555.5:c.100C>T | ENSP00000422817.1:p.Arg34Cys | |
| ENST00000511303.5:c.34-517C>T | ENSP00000426104.1:n.34-517C>T | |
| ENST00000513821.5:c.100C>T | ENSP00000426571.1:p.Arg34Cys | |
| ENST00000513942.5:n.104-517C>T | ||
| ENST00000514934.1:c.159C>T | ENSP00000423168.1:p.Ala53= | |
| NM_000023.2:c.100C>T , LRG_203t1:c.100C>T | NP_000014.1:p.Arg34Cys | |
| NM_001135697.1:c.100C>T | NP_001129169.1:p.Arg34Cys | |
| XM_011525120.1:c.100C>T | XP_011523422.1:p.Arg34Cys | |
| XM_011525121.1:c.100C>T | XP_011523423.1:p.Arg34Cys | |
| XM_011525122.1:c.100C>T | XP_011523424.1:p.Arg34Cys | |
| XM_011525123.1:c.100C>T | XP_011523425.1:p.Arg34Cys | |
| XM_011525124.1:c.-52C>T | XP_011523426.1:n.-52C>T | |
| XR_934517.1:n.166C>T | ||
| NM_000023.3:c.100C>T | NP_000014.1:p.Arg34Cys | |
| NM_001135697.2:c.100C>T | NP_001129169.1:p.Arg34Cys | |
| NR_135553.1:n.156C>T | ||
| XM_011525120.2:c.262C>T | XP_011523422.2:p.Arg88Cys | |
| XM_011525121.2:c.262C>T | XP_011523423.2:p.Arg88Cys | |
| XM_011525122.2:c.262C>T | XP_011523424.2:p.Arg88Cys | |
| XM_011525123.2:c.262C>T | XP_011523425.2:p.Arg88Cys | |
| XM_011525124.2:c.-52C>T | XP_011523426.1:n.-52C>T | |
| XM_024450873.1:c.-52C>T | XP_024306641.1:n.-52C>T | |
| XR_002958056.1:n.618C>T | ||
| NM_000023.4:c.100C>T MANE Select | NP_000014.1:p.Arg34Cys | |
| NM_001135697.3:c.100C>T | NP_001129169.1:p.Arg34Cys | |
| NR_135553.2:n.136C>T |