HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99835774T>C , CM000672.2:g.99835774T>C | GRCh38 |
NC_000010.10:g.101595531T>C , CM000672.1:g.101595531T>C | GRCh37 |
NC_000010.9:g.101585521T>C | NCBI36 |
NG_011798.1:g.58069T>C | |
NG_011798.2:g.58177T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647814.1:c.3415-317T>C MANE Select | ENSP00000497274.1:n.3415-317T>C | |
ENST00000370449.8:c.3415-317T>C | ENSP00000359478.4:n.3415-317T>C | |
NM_000392.4:c.3415-317T>C | NP_000383.1:n.3415-317T>C | |
XM_006717630.2:c.2719-317T>C | XP_006717693.1:n.2719-317T>C | |
XR_945604.1:n.3604-317T>C | ||
XR_945605.1:n.3606-317T>C | ||
NM_000392.5:c.3415-317T>C MANE Select | NP_000383.2:n.3415-317T>C | |
XM_006717630.3:c.2719-317T>C | XP_006717693.1:n.2719-317T>C | |
XR_945604.3:n.3658-317T>C | ||
XR_945605.3:n.3658-317T>C |