Linked Data
dbSNP Id:
rs12073504
gnomAD v2:
1-2452979-C-G
gnomAD v3:
1-2521540-C-G
gnomAD v4:
1-2521540-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2521540C>G , CM000663.2:g.2521540C>G | GRCh38 |
| NC_000001.10:g.2452979C>G , CM000663.1:g.2452979C>G | GRCh37 |
| NC_000001.9:g.2442839C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378466.9:c.207+178G>C MANE Select | ENSP00000367727.5:n.207+178G>C | |
| ENST00000435556.8:c.207+178G>C | ENSP00000421433.3:n.207+178G>C | |
| ENST00000502770.2:c.*70G>C | ENSP00000425674.3:n.*70G>C | |
| ENST00000378466.7:c.231+178G>C | ENSP00000367727.4:n.231+178G>C | |
| ENST00000435556.7:c.216+178G>C | ENSP00000421433.2:n.216+178G>C | |
| ENST00000486396.1:c.113-225G>C | ENSP00000425668.1:n.113-225G>C | |
| ENST00000491212.1:n.670+178G>C | ||
| ENST00000502770.1:c.535G>C | ENSP00000425674.2:n.535G>C | |
| ENST00000514922.1:n.395G>C | ||
| NM_018216.2:c.231+178G>C | NP_060686.2:n.231+178G>C | |
| XM_011541707.1:c.231+178G>C | XP_011540009.1:n.231+178G>C | |
| XM_011541708.1:c.231+178G>C | XP_011540010.1:n.231+178G>C | |
| XR_241034.2:n.245+178G>C | ||
| NM_018216.3:c.207+178G>C | NP_060686.3:n.207+178G>C | |
| XM_011541708.3:c.207+178G>C | XP_011540010.2:n.207+178G>C | |
| XR_241034.3:n.242+178G>C | ||
| NM_018216.4:c.207+178G>C MANE Select | NP_060686.3:n.207+178G>C |