Linked Data
dbSNP Id:
rs1229743653
gnomAD v2:
5-1275558-G-C
gnomAD v3:
5-1275443-G-C
gnomAD v4:
5-1275443-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1275443G>C , CM000667.2:g.1275443G>C | GRCh38 |
| NC_000005.9:g.1275558G>C , CM000667.1:g.1275558G>C | GRCh37 |
| NC_000005.8:g.1328558G>C | NCBI36 |
| NG_009265.1:g.24605C>G , LRG_343:g.24605C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2287-3163C>G MANE Select | ENSP00000309572.5:n.2287-3163C>G | |
| ENST00000656021.1:c.*1833-3163C>G | ENSP00000499759.1:n.*1833-3163C>G | |
| ENST00000310581.9:c.2287-3163C>G | ENSP00000309572.5:n.2287-3163C>G | |
| ENST00000334602.10:c.2287-3163C>G | ENSP00000334346.6:n.2287-3163C>G | |
| ENST00000460137.6:c.2250+3198C>G | ENSP00000425003.1:n.2250+3198C>G | |
| ENST00000484238.6:n.1099+3198C>G | ||
| ENST00000508104.2:c.2286+3198C>G | ENSP00000426042.2:n.2286+3198C>G | |
| NM_001193376.1:c.2287-3163C>G | NP_001180305.1:n.2287-3163C>G | |
| NM_198253.2:c.2287-3163C>G , LRG_343t1:c.2287-3163C>G | NP_937983.2:n.2287-3163C>G | |
| XM_011514104.1:c.757-3163C>G | XP_011512406.1:n.757-3163C>G | |
| XM_011514105.1:c.643-3163C>G | XP_011512407.1:n.643-3163C>G | |
| XM_011514106.1:c.643-3163C>G | XP_011512408.1:n.643-3163C>G | |
| NR_149162.1:n.2344+3198C>G | ||
| NR_149163.1:n.2308+3198C>G | ||
| NM_001193376.2:c.2287-3163C>G | NP_001180305.1:n.2287-3163C>G | |
| NM_198253.3:c.2287-3163C>G MANE Select | NP_937983.2:n.2287-3163C>G | |
| NR_149162.2:n.2365+3198C>G | ||
| NR_149163.2:n.2329+3198C>G | ||
| NM_001193376.3:c.2287-3163C>G | NP_001180305.1:n.2287-3163C>G | |
| NR_149162.3:n.2365+3198C>G | ||
| NR_149163.3:n.2329+3198C>G |