Linked Data
dbSNP Id:
rs2361502
gnomAD v2:
2-234698790-T-C
gnomAD v3:
2-233790144-T-C
gnomAD v4:
2-233790144-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233790144T>C , CM000664.2:g.233790144T>C | GRCh38 |
| NC_000002.11:g.234698790T>C , CM000664.1:g.234698790T>C | GRCh37 |
| NC_000002.10:g.234363529T>C | NCBI36 |
| NG_051337.1:g.19483T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389758.4:c.571+130T>C MANE Select | ENSP00000374408.3:n.571+130T>C | |
| ENST00000389758.3:c.571+130T>C | ENSP00000374408.3:n.571+130T>C | |
| ENST00000480634.2:n.183-3529T>C | ||
| ENST00000610772.4:c.571+130T>C | ENSP00000477597.1:n.571+130T>C | |
| NM_001287395.1:c.571+130T>C | NP_001274324.1:n.571+130T>C | |
| XM_011511075.1:c.661+130T>C | XP_011509377.1:n.661+130T>C | |
| XM_011511076.1:c.661+130T>C | XP_011509378.1:n.661+130T>C | |
| XM_011511077.1:c.661+130T>C | XP_011509379.1:n.661+130T>C | |
| XM_011511078.1:c.661+130T>C | XP_011509380.1:n.661+130T>C | |
| XM_011511079.1:c.661+130T>C | XP_011509381.1:n.661+130T>C | |
| XM_011511080.1:c.571+130T>C | XP_011509382.1:n.571+130T>C | |
| XM_011511081.1:c.661+130T>C | XP_011509383.1:n.661+130T>C | |
| XM_011511082.1:c.661+130T>C | XP_011509384.1:n.661+130T>C | |
| XM_011511083.1:c.661+130T>C | XP_011509385.1:n.661+130T>C | |
| XM_011511084.1:c.661+130T>C | XP_011509386.1:n.661+130T>C | |
| XM_011511086.1:c.661+130T>C | XP_011509388.1:n.661+130T>C | |
| XM_011511076.2:c.661+130T>C | XP_011509378.1:n.661+130T>C | |
| XM_011511086.2:c.661+130T>C | XP_011509388.1:n.661+130T>C | |
| XM_024452839.1:c.661+130T>C | XP_024308607.1:n.661+130T>C | |
| XM_024452840.1:c.661+130T>C | XP_024308608.1:n.661+130T>C | |
| XM_024452841.1:c.661+130T>C | XP_024308609.1:n.661+130T>C | |
| XM_024452842.1:c.571+130T>C | XP_024308610.1:n.571+130T>C | |
| XM_024452843.1:c.661+130T>C | XP_024308611.1:n.661+130T>C | |
| XM_024452844.1:c.661+130T>C | XP_024308612.1:n.661+130T>C | |
| XM_024452845.1:c.661+130T>C | XP_024308613.1:n.661+130T>C | |
| XM_024452846.1:c.661+130T>C | XP_024308614.1:n.661+130T>C | |
| NM_001367507.1:c.571+130T>C | NP_001354436.1:n.571+130T>C | |
| NM_001394639.1:c.571+130T>C MANE Select | NP_001381568.1:n.571+130T>C |