Linked Data
gnomAD v4:
2-188993490-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188993490T>C , CM000664.2:g.188993490T>C | GRCh38 |
| NC_000002.11:g.189858216T>C , CM000664.1:g.189858216T>C | GRCh37 |
| NC_000002.10:g.189566461T>C | NCBI36 |
| NG_007404.1:g.24118T>C , LRG_3:g.24118T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1051-548T>C | ENSP00000415346.2:n.1051-548T>C | |
| ENST00000304636.9:c.1149+31T>C MANE Select | ENSP00000304408.4:n.1149+31T>C | |
| ENST00000304636.7:c.1149+31T>C | ENSP00000304408.3:n.1149+31T>C | |
| ENST00000317840.9:c.1149+31T>C | ENSP00000315243.6:n.1149+31T>C | |
| ENST00000450867.1:c.149-548T>C | ||
| NM_000090.3:c.1149+31T>C , LRG_3t1:c.1149+31T>C | NP_000081.1:n.1149+31T>C | |
| NM_000090.4:c.1149+31T>C MANE Select | NP_000081.2:n.1149+31T>C |