HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31664101A>C , CM000683.2:g.31664101A>C | GRCh38 |
NC_000021.8:g.33036414A>C , CM000683.1:g.33036414A>C | GRCh37 |
NC_000021.7:g.31958285A>C | NCBI36 |
NG_008689.1:g.9480A>C , LRG_652:g.9480A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.169+215A>C MANE Select | ENSP00000270142.7:n.169+215A>C | |
ENST00000270142.10:c.169+215A>C | ENSP00000270142.6:n.169+215A>C | |
ENST00000389995.4:c.112+215A>C | ENSP00000374645.4:n.112+215A>C | |
ENST00000470944.1:n.1097+215A>C | ||
ENST00000476106.5:n.432+215A>C | ||
NM_000454.4:c.169+215A>C , LRG_652t1:c.169+215A>C | NP_000445.1:n.169+215A>C | |
NM_000454.5:c.169+215A>C MANE Select | NP_000445.1:n.169+215A>C |