Linked Data
dbSNP Id:
rs5085
gnomAD v2:
1-161192511-C-G
gnomAD v3:
1-161222721-C-G
gnomAD v4:
1-161222721-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161222721C>G , CM000663.2:g.161222721C>G | GRCh38 |
| NC_000001.10:g.161192511C>G , CM000663.1:g.161192511C>G | GRCh37 |
| NC_000001.9:g.159459135C>G | NCBI36 |
| NG_012043.1:g.5908G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367990.7:c.185+197G>C MANE Select | ENSP00000356969.3:n.185+197G>C | |
| ENST00000463273.5:c.185+197G>C | ENSP00000476740.1:n.185+197G>C | |
| ENST00000463812.1:c.41+197G>C | ENSP00000476890.1:n.41+197G>C | |
| ENST00000464492.5:c.284+197G>C | ENSP00000476911.1:n.284+197G>C | |
| ENST00000468465.5:c.41+197G>C | ENSP00000476662.1:n.41+197G>C | |
| ENST00000469730.2:c.185+197G>C | ENSP00000476605.1:n.185+197G>C | |
| ENST00000470459.6:c.185+197G>C | ENSP00000477031.1:n.185+197G>C | |
| ENST00000481413.1:n.696+197G>C | ||
| ENST00000481511.5:c.*182+197G>C | ENSP00000477054.1:n.*182+197G>C | |
| ENST00000491350.1:c.53-199G>C | ENSP00000477353.1:n.53-199G>C | |
| NM_001643.1:c.185+197G>C | NP_001634.1:n.185+197G>C | |
| NM_001643.2:c.185+197G>C MANE Select | NP_001634.1:n.185+197G>C |