Linked Data
ClinVar Variation Id:
306796
ClinVar RCV Id:
RCV002056254
dbSNP Id:
rs191087950
ExAC:
12:102151339 G / C
gnomAD v2:
12-102151339-G-C
gnomAD v3:
12-101757561-G-C
gnomAD v4:
12-101757561-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757561G>C , CM000674.2:g.101757561G>C | GRCh38 |
| NC_000012.11:g.102151339G>C , CM000674.1:g.102151339G>C | GRCh37 |
| NC_000012.10:g.100675470G>C | NCBI36 |
| NG_021243.1:g.78307C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.3335+11C>G MANE Select | ENSP00000299314.7:n.3335+11C>G | |
| ENST00000299314.11:c.3335+11C>G | ENSP00000299314.7:n.3335+11C>G | |
| ENST00000549194.1:n.201+11C>G | ||
| ENST00000549738.5:c.86+11C>G | ENSP00000450161.1:n.86+11C>G | |
| ENST00000550718.1:c.147+11C>G | ||
| NM_024312.4:c.3335+11C>G | NP_077288.2:n.3335+11C>G | |
| XM_006719593.2:c.3335+11C>G | XP_006719656.1:n.3335+11C>G | |
| XM_011538731.1:c.3254+11C>G | XP_011537033.1:n.3254+11C>G | |
| XM_006719593.3:c.3335+11C>G | XP_006719656.1:n.3335+11C>G | |
| XM_011538731.2:c.3254+11C>G | XP_011537033.1:n.3254+11C>G | |
| XM_017019961.1:c.3119+11C>G | XP_016875450.1:n.3119+11C>G | |
| XM_017019962.2:c.2108+11C>G | XP_016875451.1:n.2108+11C>G | |
| NM_024312.5:c.3335+11C>G MANE Select | NP_077288.2:n.3335+11C>G |