HGVS | Genome Assembly |
---|---|
NC_000005.10:g.218349A>C , CM000667.2:g.218349A>C | GRCh38 |
NC_000005.9:g.218464A>C , CM000667.1:g.218464A>C | GRCh37 |
NC_000005.8:g.271464A>C | NCBI36 |
NG_012339.1:g.5109A>C | |
NG_033064.1:g.4834T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264932.11:c.-7A>C MANE Select | ENSP00000264932.6:n.-7A>C | |
ENST00000651543.1:c.-7A>C | ENSP00000499215.1:n.-7A>C | |
ENST00000264932.10:c.-7A>C | ENSP00000264932.6:n.-7A>C | |
ENST00000502379.5:n.39A>C | ||
ENST00000504309.5:c.-7A>C | ENSP00000426514.1:n.-7A>C | |
ENST00000505555.5:n.34A>C | ||
ENST00000509632.5:c.-7A>C | ENSP00000425077.1:n.-7A>C | |
ENST00000510361.5:c.-7A>C | ENSP00000427703.1:n.-7A>C | |
ENST00000617470.4:c.-7A>C | ENSP00000484230.1:n.-7A>C | |
NM_001294332.1:c.-7A>C | NP_001281261.1:n.-7A>C | |
NM_004168.3:c.-7A>C | NP_004159.2:n.-7A>C | |
XM_005248331.2:c.-7A>C | XP_005248388.1:n.-7A>C | |
XM_011514072.1:c.-7A>C | XP_011512374.1:n.-7A>C | |
XM_011514073.1:c.-7A>C | XP_011512375.1:n.-7A>C | |
XR_925638.1:n.127A>C | ||
NM_001330758.1:c.-7A>C | NP_001317687.1:n.-7A>C | |
XM_011514072.2:c.-7A>C | XP_011512374.1:n.-7A>C | |
XM_011514073.2:c.-7A>C | XP_011512375.1:n.-7A>C | |
XM_017009685.2:c.-7A>C | XP_016865174.1:n.-7A>C | |
XM_024446143.1:c.-7A>C | XP_024301911.1:n.-7A>C | |
XR_002956167.1:n.41A>C | ||
NM_004168.4:c.-7A>C MANE Select | NP_004159.2:n.-7A>C | |
NM_001294332.2:c.-7A>C | NP_001281261.1:n.-7A>C | |
NM_001330758.2:c.-7A>C | NP_001317687.1:n.-7A>C |